5799 Results for: "Vacuum+Traps&pageNo=51"

Supplier: Bioss

Belonging to the UPF0667 family, C1orf55 is a 451 amino acid protein that is phosphorylated upon DNA damage, likely by Atm or ATR. There are three different isoforms of C1orf55 that are produced as a result of alternative splicing events. The gene encoding C1orf55 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.

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 C6orf154 gene product has been provisionally designated C6orf154 pending further characterisation.

Supplier: Bioss

DHRSX (dehydrogenase/reductase SDR family member on chromosome X) is a 330 amino acid protein belonging to the short-chain dehydrogenases/reductases (SDR) family. Widely expressed, DHRSX is an oxidoreductase that contains a coenzyme binding site and a substrate binding site, indicating a possible role in cellular metabolism. The gene that encodes DHRSX is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of a X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unusual number and combination of sex chromosomes being inherited, including Turner's syndrome, Klinefelter's syndrome and Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.

Supplier: Bioss

Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes Lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

Supplier: Bioss

TMEM147, also known as ; NIFIE 14, is a 224 amino acid protein encoded by a gene mapping to human chromosome 19. Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognised for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.

Supplier: Bioss

C6orf130 is 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 C6orf130 gene product has been provisionally designated C6orf130 pending further characterisation.

Supplier: Bioss

The nuclear envelope separates the nucleoplasm from the cytoplasm in eukaryotic cells and includes the outer and inner nuclear membrane, nuclear pore complexes and the nuclear lamina. The nuclear lamina contains intermediate filament-type proteins called lamins that form a dense network to strengthen and stabilize the nuclear envelope. Lamina-associated polypeptide 2 (LAP2) is also known as thymopoietin. LAP2 is a nuclear envelope protein and contains an amino-terminal region called the LAP2-emerin-MAN1 or LEM motif. LAP2 also contains a unique DNA-binding amino-terminal domain. Alternative splicing produces six isoforms (, _,_, and ) of mammalian LAP2 and three isoforms in Xenopus LAP2. LAP2 and LAP2_ associate with chromosomal barrier-to-autointegration factor (BAF) and may play a role in stabilizing chromatin structure. LAP2_ also binds to lamin B. LAP2 is a non-membrane isoform of LAP2 that associates with the internal nucleoskeleton and binds lamin A. The gene encoding human LAP2 maps to chromosome 12q23.1.

Supplier: Biotium

Label your antibody with one of our superior CF® Dyes in 30 minutes without a purification step. Labelling tolerates many common buffer components including BSA and ascites.

Supplier: Bioss

Synaptotagmins are a large family of synaptic vesicle type III integral membrane proteins that function as regulators of both exocytosis and endocytosis and are involved in neurotransmitter secretion from small secretory vesicles. Synaptotagmin XI, also known as SYT11 (Synaptotagmin-11), is a 431 amino acid protein that localizes to the membrane and is expressed ubiquitously with highest expression in brain and lung. Like other Synaptotagmin proteins, Synaptotagmin XI is involved in the calcium-dependent exocytosis of secretory vesicles and is thought to act as a calcium sensor during vesicular trafficking. Synaptotagmin XI contains two C2 domains through which it can bind either three calcium ions or the zinc-finger protein Parkin (a juvenile Parkinson's disease gene product), the latter of which causes the polyubiquitination and subsequent degradation of Synaptotagmin XI by the proteasome complex. Defects in the gene encoding Synaptotagmin XI are implicated in a number of neurological disorders, including schizophrenia and Parkinson's disease.

Supplier: Bioss

E3 ubiquitin-protein ligase that regulates several biological processes through ubiquitination of various target proteins. Depending on the associated E2 ligase, mediates 'Lys-48'- and 'Lys-63'-linked polyubiquitination of substrates. Through their polyubiquitination, may play a role in the endosomal sorting and degradation of several membrane receptors including EGFR, FLT3, MET and CXCR4. May also be part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalised to the cytosol are degraded by the proteasome. May provide the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the mislocalised proteins and their targeting to the proteasome (PubMed:24981174). May also play a role in the endosomal recycling of IGF2R, the cation-independent mannose-6-phosphate receptor (PubMed:24275455). By ubiquitinating CDKN1A/p21 and targeting it for degradation, may also promote cell proliferation (PubMed:23026136). May monoubiquitinate AICDA (PubMed:23277564).

Supplier: Bioss

The GGA family of proteins (Golgi-localized, g-Adaptin ear-containing, ARF-binding proteins) are ubiquitous coat proteins that facilitate the trafficking of soluble proteins from the trans-Golgi network (TGN) to endosomes/lysosomes by means of interactions with TGN-sorting receptors, ARF (ADP-ribosylation factor), and clathrin. Members of the GGA family, GGA1,GGA2 (also known as VEAR) and GGA3, are multi-domain proteins that bind mannose 6-phosphate receptors (MPRs). GGAs have modular structures with an N-terminal VHS (VPS27, Hrs and STAM) domain followed by a GAT (GGA and Tom1) domain, a connecting hinge segment and a C-terminal GAE (g-Adaptin ear) domain. The amino-terminal VHS domains of GGAs form complexes with the cytoplasmic domains of sorting receptors by recognizing acidic-cluster di-leucine (ACLL) sequences. The human GGA3 gene maps to chromosome 17 and encodes a 723 amino acid protein that shares 46% sequence identity with GGA1 and 38% with GGA2.

Supplier: Bioss

Vertebrate neuron-specific nuclear protein called NeuN (Neuronal Nuclei) is an excellent marker for neurons in primary cultures and in retinoic acid-stimulated P19 cells. It is also useful for identifying neurons in transplants. NeuN is a neuron-specific, DNA-binding nuclear protein in vertebrates. In mice, NeuN is observed in most neuronal cell types throughout the nervous system, including cerebellum, cerebral cortex, hippocampus, thalamus and spinal cord, as well as the dorsal root ganglia, sympathetic chain ganglia and enteric ganglia of the peripheral nervous system. NeuN immunoreactivity is first observed in neurons when they become post-mitotic and are initiating cellular and morphological differentiation. No staining is observed in proliferative zones. NeuN has been used as an immunohistochemical marker for excitotoxic lesions of the brain as well as in the diagnosis of a wide range of human tissue specimens from the central and peripheral nervous systems.

Supplier: Bioss

The nuclear envelope separates the nucleoplasm from the cytoplasm in eukaryotic cells and includes the outer and inner nuclear membrane, nuclear pore complexes and the nuclear lamina. The nuclear lamina contains intermediate filament-type proteins called lamins that form a dense network to strengthen and stabilize the nuclear envelope. Lamina-associated polypeptide 2 (LAP2) is also known as thymopoietin. LAP2 is a nuclear envelope protein and contains an amino-terminal region called the LAP2-emerin-MAN1 or LEM motif. LAP2 also contains a unique DNA-binding amino-terminal domain. Alternative splicing produces six isoforms (, _,_, and ) of mammalian LAP2 and three isoforms in Xenopus LAP2. LAP2 and LAP2_ associate with chromosomal barrier-to-autointegration factor (BAF) and may play a role in stabilizing chromatin structure. LAP2_ also binds to lamin B. LAP2 is a non-membrane isoform of LAP2 that associates with the internal nucleoskeleton and binds lamin A. The gene encoding human LAP2 maps to chromosome 12q23.1.

Supplier: Bioss

The nuclear envelope separates the nucleoplasm from the cytoplasm in eukaryotic cells and includes the outer and inner nuclear membrane, nuclear pore complexes and the nuclear lamina. The nuclear lamina contains intermediate filament-type proteins called lamins that form a dense network to strengthen and stabilize the nuclear envelope. Lamina-associated polypeptide 2 (LAP2) is also known as thymopoietin. LAP2 is a nuclear envelope protein and contains an amino-terminal region called the LAP2-emerin-MAN1 or LEM motif. LAP2 also contains a unique DNA-binding amino-terminal domain. Alternative splicing produces six isoforms (, _,_, and ) of mammalian LAP2 and three isoforms in Xenopus LAP2. LAP2 and LAP2_ associate with chromosomal barrier-to-autointegration factor (BAF) and may play a role in stabilizing chromatin structure. LAP2_ also binds to lamin B. LAP2 is a non-membrane isoform of LAP2 that associates with the internal nucleoskeleton and binds lamin A. The gene encoding human LAP2 maps to chromosome 12q23.1.

Supplier: Bioss

ODF3B, also known as ODF3L3 (outer dense fiber protein 3-like protein 3), is a 253 amino acid protein belonging to the ODF3 family. Existing as two isoforms produced by alternative splicing, ODF3B contains one DUF1309 repeat. The gene that encodes ODF3B maps to human chromosome 22, which contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia.

Supplier: Bioss

Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt Signalling by targeting phosphorylated Akt to proteosomal degradation. Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the control of mitochondrial morphology. Promotes mitochondrial fragmentation and influences mitochondrial localisation. The function may implicate its ability to sumoylate DNM1L. Inhibits cell growth. When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis. Involved in the modulation of innate immune defense against viruses by inhibiting DDX58-dependent antiviral response. Can mediate DDX58 sumoylation and disrupt its polyubiquitination.

Supplier: Bioss

C6orf130 is 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 C6orf130 gene product has been provisionally designated C6orf130 pending further characterisation.

Supplier: Bioss

Cellular receptors for blood proteases regulate chemotaxis, extracellular proteolysis, and growth behavior of normal and malignant cells. Effector cell protease receptor-1 (EPR1) is a receptor for the coagulation protease factor Xa. EPR1 is characterised by a cysteine-rich extracellular module, a single membrane-spanning domain, and a serine-rich cytoplasmic tail featuring at least 15 potential phosphorylation sites. EPR1 also contains 2 N-linked glycosylation sites, 4 O-linked glycosylation sites, and a chondroitin sulfate attachment site, which may provide anchoring for carbohydrate chains, EPR1 transfectants bind to factor Xa in a specific and saturable manner, and in the absence of factor V/Va promote prothrombin activation in a factor Xa concentration-dependent reaction. Activated platelets and megakaryocytes express EPR1. Both EPR1 and membrane-bound factor Va are thought to be required to mediate factor Xa binding to the activated platelet to form a functional prothrombinase complex.

Supplier: Bioss

C8orf76 (chromosome 8 open reading frame 76) is a 380 amino acid protein encoded by a gene that maps to human chromosome 8q24.13. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Supplier: Bioss

C8orf76 (chromosome 8 open reading frame 76) is a 380 amino acid protein encoded by a gene that maps to human chromosome 8q24.13. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Supplier: Bioss

Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which is the largest human chromosome, spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes Lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

Supplier: Bioss

C9orf142 (chromosome 9 open reading frame 142) is a 204 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding C9orf142 maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

Supplier: Bioss

Vertebrate neuron-specific nuclear protein called NeuN (Neuronal Nuclei) is an excellent marker for neurons in primary cultures and in retinoic acid-stimulated P19 cells. It is also useful for identifying neurons in transplants. NeuN is a neuron-specific, DNA-binding nuclear protein in vertebrates. In mice, NeuN is observed in most neuronal cell types throughout the nervous system, including cerebellum, cerebral cortex, hippocampus, thalamus and spinal cord, as well as the dorsal root ganglia, sympathetic chain ganglia and enteric ganglia of the peripheral nervous system. NeuN immunoreactivity is first observed in neurons when they become post-mitotic and are initiating cellular and morphological differentiation. No staining is observed in proliferative zones. NeuN has been used as an immunohistochemical marker for excitotoxic lesions of the brain as well as in the diagnosis of a wide range of human tissue specimens from the central and peripheral nervous systems.

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 C6orf154 gene product has been provisionally designated C6orf154 pending further characterisation.

Supplier: Bioss

C6orf130 is 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 C6orf130 gene product has been provisionally designated C6orf130 pending further characterisation.

Supplier: Bioss

Spermatogenesis is the process by which male spermatogonia develop into mature spermatozoa. DAZ (deleted in azoospermia) are RNA-binding proteins that play an essential role in spermatogenesis. DAZ proteins influence the first stages of spermatogenesis and the maintenance of germ cell populations. DAZ proteins (DAZ1, DAZ2, DAZ3, DAZ4 and DAZ5) are encoded by separate genes on chromosome Y, each of which contain an AZFc domain in their coding region. DAZ proteins localize to the nucleus of spermatogonia, but relocate to the cytoplasm during meiosis. DAZ proteins contain an RRM (RNA recognition motif) domain that may regulate mRNA translation by binding to the 3?UTR. Deletions in the genes encoding DAZ proteins may cause azoospermia or oligospermia which can lead to male infertility. DAZ4 (deleted in azoospermia 4), also known as pDP1680 or pDP1681, is a 579 amino acid testis specific protein that contains nine DAZ-like domains and two RNA recognition motifs (RRM). DAZ4 exists as two alternatively spliced isoforms.

Supplier: Bioss

Glutamate receptors mediate most excitatory neurotransmission in the brain and play an important role in neural plasticity, neural development and neurodegeneration. Ionotropic glutamate receptors are categorised into NMDA receptors and kainate/AMPA receptors, both of which contain glutamate-gated, cation-specific ion channels. Synaptic and extrasynaptic NMDA receptors have been shown to have opposite effects on neuronal survival, CREB function and gene regulation. Gcom1 (GRINL1A complex locus protein 1), also known as GUP (GRINL1A upstream protein) and Gcom (GRINL1A combined protein), is a 466 amino acid protein that is a component of the GRINL1A complex transcription unit, which is thought to be involved in the modulation of glutamatergic neurotransmission through interaction with the NR1 subunit of the NMDA receptor. Gcom1 is expressed in small intestine, lung, liver, heart, skeletal muscle, testis and prostate and also colocalises with NR1 in cortical and hippocampal neurons. There are eleven isoforms of Gcom1 that are produced as a result of alternative splicing events.

Supplier: Bioss

C1orf85, also known as Lysosomal protein NCU-G1, is a 406 amino acid single-pass membrane protein that is highly glycosylated on its amino-terminal end. Transcription of the gene encoding C1orf85 is activated by TFEB, a transcription factor that specifically recognizes and binds E-box sequences. There are two isoforms of C1orf85 that are produced as a result of alternative splicing events. The C1orf85 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf113 gene product has been provisionally designated C1orf113 pending further characterization.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf113 gene product has been provisionally designated C1orf113 pending further characterization.