26282 Results for: "Molekula"

Supplier: Bioss

The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues(Kolodkin et al., 1993 [PubMed 8269517]). Sequence comparisons have grouped the secreted semaphorins into 3 general classes, all of which also have an immunoglobulin domain. The semaphorin III family, consisting of human semaphorin III (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins A, D, and E, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993 [PubMed 8402908]) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995 [PubMed7637782]), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.

Supplier: Bioss

Connexin 29 belongs to the connexin family and is a member of the epsilon-type subfamily. Connexin 29 is a membrane bound, multi-pass protein also known as gap junction epsilon-1 protein. A connexon, consisting of connexin hexamers, is a membrane bound structure that is integral in the formation of a gap junction. One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low molecular weight diffuse from one cell to a neighboring cell. Connexin 29 expression is restricted to the central nervous system and is present in brain, spinal cord, and sciatic nerve samples. It has been suggested that connexin 29 in the mature CNS contributes minimally to gap junctional intercellular communication in oligodendrocyte cell bodies. Rather, connexin 29 is targeted to myelin where it, along with connexin 32, may contribute to connexin-mediated communication between adjacent layers of uncompacted myelin.

Supplier: Bioss

p130 represents one of several known substrates for v-Crk encoded p47. p130 Cas (for Crk-associated substrate) exhibits a high level of tyrosine phosphorylation and is tightly associated with v-Crk, suggesting a role in v-Crk-mediated cell signaling. The molecular cloning of p130 Cas has shown it to represent a novel SH3 containing signaling molecule with a cluster of multiple putative SH2-binding motifs for v-Crk. By immunoprecipitation analysis, p130 Cas has been shown to be highly phosphorylated at tyrosine residues subsequent to either v-Src p60 or v-Crk-mediated transformation and to form stable complexes with both of these transforming proteins. p130 Cas behaves as an extremely potent substrate for protein tyrosine kinases and has been reported to relocate from the cytoplasm to cell membrane upon tyrosine phosphorylation. One proposed model is that the SH2 domain of v-Crk functions to activate c-Src kinase, which in turn phosphorylates p130 Cas.

Supplier: Bioss

The oligodendrocyte lineage-specific basic helix-loop-helix (OLIG) family of transcription factors include OLIG1-OLIG3, which differ in tissue expression. OLIG1 and OLIG2 are specifically expressed in nervous tissue as gene regulators of oligodendrogenesis. OLIG2 is more widely expressed in embryonic brain than OLIG1, while OLIG3 is primarily expressed in non-neural tissues. OLIG1 and OLIG2 interact with the Nkx-2.2 homeodomain protein, which is responsible for directing ventral neuronal patterning in response to graded Sonic hedgehog signaling in the embryonic neural tube. These interactions between OLIG proteins and Nkx-2.2 appear to promote the formation of alternate cell types by inhibiting V3 interneuron development. OLIG1 and OLIG2 are abundantly expressed in oligodendroglioma and nearly absent in astrocytomas. Therefore, OLIG proteins are candidates for molecular markers of human glial brain tumors, which are the most common primary malignancies of the human brain.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf32 gene product has been provisionally designated C6orf32 pending further characterization.

Supplier: Bioss

Connexin 29 belongs to the connexin family and is a member of the epsilon-type subfamily. Connexin 29 is a membrane bound, multi-pass protein also known as gap junction epsilon-1 protein. A connexon, consisting of connexin hexamers, is a membrane bound structure that is integral in the formation of a gap junction. One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low molecular weight diffuse from one cell to a neighboring cell. Connexin 29 expression is restricted to the central nervous system and is present in brain, spinal cord, and sciatic nerve samples. It has been suggested that connexin 29 in the mature CNS contributes minimally to gap junctional intercellular communication in oligodendrocyte cell bodies. Rather, connexin 29 is targeted to myelin where it, along with connexin 32, may contribute to connexin-mediated communication between adjacent layers of uncompacted myelin.

Supplier: Bioss

The oligodendrocyte lineage-specific basic helix-loop-helix (OLIG) family of transcription factors include OLIG1-OLIG3, which differ in tissue expression. OLIG1 and OLIG2 are specifically expressed in nervous tissue as gene regulators of oligodendrogenesis. OLIG2 is more widely expressed in embryonic brain than OLIG1, while OLIG3 is primarily expressed in non-neural tissues. OLIG1 and OLIG2 interact with the Nkx-2.2 homeodomain protein, which is responsible for directing ventral neuronal patterning in response to graded Sonic hedgehog signaling in the embryonic neural tube. These interactions between OLIG proteins and Nkx-2.2 appear to promote the formation of alternate cell types by inhibiting V3 interneuron development. OLIG1 and OLIG2 are abundantly expressed in oligodendroglioma and nearly absent in astrocytomas. Therefore, OLIG proteins are candidates for molecular markers of human glial brain tumors, which are the most common primary malignancies of the human brain.

Supplier: Bioss

Transcription factors, OTX1 and OTX2, are two murine homologs of the Drosophila orthodenticle (OTD), show a limited amino acid sequence divergence. OTX1 and OTX2 play an important role during early and later events required for proper brain development in that they are involved in the processes of induction, specification and regionalization of the brain. OTX1 is involved in corticogenesis, sensory organ development and pituitary functions, while OTX2 is necessary earlier in development, for the correct anterior neural plate specification and organization of the primitive streak. OTX2 is also required in the early specification of the neuroectoderm, which is destined to become the fore-midbrain, and both OTX1 and OTX2 co-operate in patterning the developing brain through a dosage-dependent mechanism. A molecular mechanism depending on a precise threshold of OTX proteins is necessary for the correct positioning of the isthmic region and for anterior brain patterning. The genes which encode OTX1 and OTX2 map to human chromosomes 2p13 and 14q21-q22, respectively.

Supplier: Bioss

Connexin 29 belongs to the connexin family and is a member of the epsilon-type subfamily. Connexin 29 is a membrane bound, multi-pass protein also known as gap junction epsilon-1 protein. A connexon, consisting of connexin hexamers, is a membrane bound structure that is integral in the formation of a gap junction. One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low molecular weight diffuse from one cell to a neighboring cell. Connexin 29 expression is restricted to the central nervous system and is present in brain, spinal cord, and sciatic nerve samples. It has been suggested that connexin 29 in the mature CNS contributes minimally to gap junctional intercellular communication in oligodendrocyte cell bodies. Rather, connexin 29 is targeted to myelin where it, along with connexin 32, may contribute to connexin-mediated communication between adjacent layers of uncompacted myelin.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf62 gene product has been provisionally designated C6orf62 pending further characterisation.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf134 gene product has been provisionally designated C6orf134 pending further characterization.

Supplier: Bioss

Dyneins are multisubunit, high molecular weight ATPases that interact with microtubules to generate force by converting the chemical energy of ATP into the mechanical energy of movement. Cytoplasmic or axonemal Dynein heavy, intermediate, light and light-intermediate chains are all components of minus end-directed motors; the complex transports cellular cargos towards the central region of the cell. Axonemal dynein motors contain one to three non-identical heavy chains and cause a sliding of microtubules in the axonemes of cilia and flagella in a mechanism necessary for cilia to beat and propel the cell. DNAH9 (Dynein, axonemal, heavy chain 9), also known as DYH9, HL20, DNEL1, Dnahc9 or DNAH17L, is a member of the Dynein heavy chain family and comprises one of the heavy chain subunits of axonemal Dynein. DNAH9 consists of an N-terminal stem which is responsible for interacting with other Dynein components and binding cargo, and four P-loops that comprise the motor domain at its C-terminus.

Supplier: Biotium

The epitope of this MAb is located between aa343-357. Cytokeratin 8 (CK8) belongs to the type II (or B or basic) subfamily of high molecular weight cytokeratins and exists in combination with cytokeratin 18 (CK18). CK8 is primarily found in the non-squamous epithelia and is present in majority of adenocarcinomas and ductal carcinomas. It is absent in squamous cell carcinomas. Hepatocellular carcinomas are defined by the use of antibodies that recognize only cytokeratin 8 and 18. CK8 exists on several types of normal and neoplastic epithelia, including many ductal and glandular epithelia such as colon, stomach, small intestine, trachea, and esophagus as well as in transitional epithelium. Anti-CK8 does not react with skeletal muscle or nerve cells. Epithelioid sarcoma, chordoma, and adamantinoma show strong positivity corresponding to that of simple epithelia (with antibodies against CK8, CK18 and CK19). Reportedly, anti-CK8 is useful for the differentiation of lobular (ring-like, perinuclear) from ductal (peripheral-predominant) carcinoma of the breast.

Supplier: Biotium

The epitope of this MAb is located between aa343-357. Cytokeratin 8 (CK8) belongs to the type II (or B or basic) subfamily of high molecular weight cytokeratins and exists in combination with cytokeratin 18 (CK18). CK8 is primarily found in the non-squamous epithelia and is present in majority of adenocarcinomas and ductal carcinomas. It is absent in squamous cell carcinomas. Hepatocellular carcinomas are defined by the use of antibodies that recognize only cytokeratin 8 and 18. CK8 exists on several types of normal and neoplastic epithelia, including many ductal and glandular epithelia such as colon, stomach, small intestine, trachea, and esophagus as well as in transitional epithelium. Anti-CK8 does not react with skeletal muscle or nerve cells. Epithelioid sarcoma, chordoma, and adamantinoma show strong positivity corresponding to that of simple epithelia (with antibodies against CK8, CK18 and CK19). Reportedly, anti-CK8 is useful for the differentiation of lobular (ring-like, perinuclear) from ductal (peripheral-predominant) carcinoma of the breast.

Supplier: Bioss

The oligodendrocyte lineage-specific basic helix-loop-helix (OLIG) family of transcription factors include OLIG1-OLIG3, which differ in tissue expression. OLIG1 and OLIG2 are specifically expressed in nervous tissue as gene regulators of oligodendrogenesis. OLIG2 is more widely expressed in embryonic brain than OLIG1, while OLIG3 is primarily expressed in non-neural tissues. OLIG1 and OLIG2 interact with the Nkx-2.2 homeodomain protein, which is responsible for directing ventral neuronal patterning in response to graded Sonic hedgehog signaling in the embryonic neural tube. These interactions between OLIG proteins and Nkx-2.2 appear to promote the formation of alternate cell types by inhibiting V3 interneuron development. OLIG1 and OLIG2 are abundantly expressed in oligodendroglioma and nearly absent in astrocytomas. Therefore, OLIG proteins are candidates for molecular markers of human glial brain tumors, which are the most common primary malignancies of the human brain.

Supplier: Bioss

The oligodendrocyte lineage-specific basic helix-loop-helix (OLIG) family of transcription factors include OLIG1-OLIG3, which differ in tissue expression. OLIG1 and OLIG2 are specifically expressed in nervous tissue as gene regulators of oligodendrogenesis. OLIG2 is more widely expressed in embryonic brain than OLIG1, while OLIG3 is primarily expressed in non-neural tissues. OLIG1 and OLIG2 interact with the Nkx-2.2 homeodomain protein, which is responsible for directing ventral neuronal patterning in response to graded Sonic hedgehog signaling in the embryonic neural tube. These interactions between OLIG proteins and Nkx-2.2 appear to promote the formation of alternate cell types by inhibiting V3 interneuron development. OLIG1 and OLIG2 are abundantly expressed in oligodendroglioma and nearly absent in astrocytomas. Therefore, OLIG proteins are candidates for molecular markers of human glial brain tumors, which are the most common primary malignancies of the human brain.

Supplier: Bioss

Talin, a multifunctional constituent of cell-substratum attachment sites, is a high molecular weight protein (225-270 kDa) found in variety of tissues and cell types. It is localized at a subset of adherens junctions, specialized cell-cell and cell-matrix associations that are characterized by the presence of filamentous actin at the cytoplasmic face of the junctional complex. In cultured cells, talin is absent from cell-cell junctions and found predominantly at adhesion plaques and in fibrillar streaks underlying cell surface fibronectin. Talin interacts with at least two other proteins that are localized at adhesion plaques, vinculin and integrin. Talin and vinculin have been shown to interact with each other and both have been proposed to be involved in generating the transmembrane connection, between the extracellular matrix and the cytoskeleton, that occurs at adhesion plaques. At physiological ionic strength, talin is an elongate, flexible, monomeric protein with the ability to self-associate into dimers at higher protein concentrations.

Supplier: Bioss

C6orf123 is a Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf123 gene product has been provisionally designated C6orf123 pending further characterization.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf146 gene product has been provisionally designated C6orf146 pending further characterisation.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf70 gene product has been provisionally designated C6orf70 pending further characterisation.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf186 gene product has been provisionally designated C6orf186 pending further characterisation.

Supplier: Bioss

The Gab family of adaptor proteins function as molecular scaffolds that mediate protein recruit-ment to RTKs. Cytokine/growth factor triggering of protein tyrosine kinase receptors (RTKs) initiates signaling cascades that progress to the nucleus where signals for activation, proliferation and differentiation occur. This scaffolding mechanism represents a critical link in cytokine/growth factor signaling routes. Gab 1-4 contain Pleckstrin homology and potential binding sites for SH2 and SH3 domain-containing proteins. The recruitment of signaling partners to Gab family members is phosphorylation-dependent. Insulin receptor and EGF receptor signaling are among the cascades that rely on Gab family members to elicit a nuclear response to an extracellular stimulus. Gab 4 (GRB2-associated-binding protein 4), also designated GRB2-associated-binding protein 2-like (Gab 2-like), is a 574 amino acid protein that shares 62% sequence similarity with Gab 2 and contains one Pleckstrin homology domain.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatibility complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf62 gene product has been provisionally designated C6orf62 pending further characterisation.

Supplier: Bioss

The Interferon family of proteins are able to alter the expression of a variety of target genes, thereby controlling various events within the cell. IFI-35 (Interferon-induced 35 kDa protein), also known as IFP35, is a 286 amino acid interferon-induced protein. Localized to the nucleus and expressed in macrophages, fibroblasts and epithelial cells, IFI-35 is a leucine zipper protein that can form homodimers, but, unlike most leucine zipper proteins, cannot bind DNA. Upon induction by IFN-? IFI-35 associates with Nmi (N-Myc-interacting protein), resulting in the formation of a high molecular weight complex that is thought to play a role in IFN-?signaling and cellular responses. Once complexed with Nmi, IFI-35 is unable to be degraded by the proteasome, suggesting that IFI-35 is protected from degradation only when needed by IFN-? Two isoforms of IFI-35 exist due to alternative splicing events.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf174 gene product has been provisionally designated C6orf174 pending further characterization.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf165 gene product has been provisionally designated C6orf165 pending further characterisation.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf146 gene product has been provisionally designated C6orf146 pending further characterisation.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf182 gene product has been provisionally designated C6orf182 pending further characterisation.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf64 gene product has been provisionally designated C6orf64 pending further characterization.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf134 gene product has been provisionally designated C6orf134 pending further characterization.