7474 Results for: "L-\u03B1-phosphatidylinositol-4,5-bisphosphate&pageNo=51"

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 C1orf163 gene product has been provisionally designated C1orf163 pending further characterization.

Supplier: Bioss

DR1, also known as NC2 (negative cofactor 2 subunit ), is a TFIID (TATA box-binding protein)-associated protein. DR1 localizes to the nucleus and contains an N-terminal histone fold motif, a TFIID-binding domain and an alanine and glutamine rich region. Via its histone fold motif, DR1 forms a heterodimer with NC2å (DRAP1) to comprise the conserved eukaryotic complex, NC2 (negative cofactor 2). The NC2 complex can both positively and negatively regulate transcription by RNA Pol II. More specifically, NC2 acts as a repressor of TATA-dependent transcription and acts as an activator for DPE-dependent transcription. NC2 represses RNA Pol II transcription by binding to TFIID and inhibiting association of the transcription factors TFIIA and TFIIB. NC2 activity is regulated by phosphorylation. Both subunits, NC2å and DR1, are phosphorylated in vivo.

Supplier: Bioss

C22orf36 is a 315 amino acid protein that contains two LRR (leucine-rich) repeats and exists as two alternatively spliced isoforms. C22orf36 is encoded by a gene located on human chromosome 22, which contains over 500 genes and about 49 million bases. As the second smallest human chromosome, chromosome 22 contains a wide variety of genes with numerous functions. 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

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 characterization.

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 characterization.

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

p22HBP, also known as HEBP1 (heme binding protein 1), HBP or HEBP, is a 189 amino acid intracellular tetrapyrrole-binding protein that assists in prevention of cellular toxicity by removing free porphyrinogens from the cell. Existing as a monomer, p22HBP localizes to cytoplasm and contains a 21 amino acid chemoattractant within its N-terminus that functions as a natural ligand for FPR3. p22HBP is a member of the HEBP family and binds N-methylprotoporphyrin and metalloporphyrins with similar affinity to porphyrinogens. The gene encoding p22HBP maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.

Supplier: MP Biomedicals

Pure Canavalia ensiformis lectin (Con A) from Jackbean.

Supplier: Bioss

PDZD9 (PDZ domain containing 9) is a 264 amino acid protein that contains one PDZ (DHR) domain and participates in protein binding. Conserved in chimpanzee, dog, cow, mouse and rat, PDZD9 exists as two alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 16p12.1. Chromosome 16 encodes over 900 genes, approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. Giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth, and the rare disorder Rubinstein-Taybi syndrome, characterized by mental retardation and predisposition to tumor growth and white blood cell neoplasias, are associated with chromosome 16. Crohn's disease, a gastrointestinal inflammatory condition, and systemic lupus erythematosis are also associated with chromosome 16.

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 characterized 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

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 signaling 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 localization. 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

TNFRSF14 is a type I membrane protein belonging to the TNF receptor superfamily. This receptor mediates herpes virus entry into cells during infection. TNFRSF14 is able to inhibit the proliferation, activation, and cytokine production of T cells. It has an extracellular domain containing several cysteine-rich repeats and a short cytoplasmic region containing a TRAF (TNF receptor-associated factor) interaction domain. The extracellular domain of TNFRSF14 interacts with the herpes simplex virus envelope glycoprotein D. TNFRSF14 binds two cellular ligands: lymphotoxin alpha and LIGHT. LIGHT is a transmembrane protein expressed and shed from the surface of activated T cells, exhibits inducible expression, and competes with HSV glycoprotein D for HVEM, a receptor expressed by T lymphocytes. The LIGHT:TNFRSF14 interaction controls immune response functions by cell death induction as well as cell activation. TNFRSF14 is expressed by peripheral blood T cells, B cells, monocytes and in various tissues enriched in lymphoid cells.

Supplier: Bioss

Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. ELL3 is a 397 amino acid nuclear protein that functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. Though similar to ELL and ELL2, ELL3 is exclusively expressed in testis.

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 C1orf190 gene product has been provisionally designated C1orf190 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 C1orf190 gene product has been provisionally designated C1orf190 pending further characterization.

Supplier: Bioss

The cytochrome c oxidase (COX) family of proteins function as the final electron donor in the respiratory chain to drive a proton gradient across the inner mitochondrial membrane, ultimately resulting in the production of water. C1orf31 is a 125 amino acid mitochondrial protein that belongs to the cytochrome c oxidase subunit 6B family. There are three isoforms of C1orf31 that are produced as a result of alternative splicing events. The gene encoding C1orf31 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 3000 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.

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 C1orf163 gene product has been provisionally designated C1orf163 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 C1orf163 gene product has been provisionally designated C1orf163 pending further characterization.

Supplier: Bioss

Uteroglobin belongs to the family of secretoglobins and is a secreted protein product of nonciliated bronchiolar Clara cells. There is convincing data suggesting it has phospholipase A2 inhibitory activity, as well as, a number of other immunomodulatory features including inhibition of interferon gamma signalling and Th1 vs. Th2 lymphocyte regulation. It was proposed as a potential peripheral marker of respiratory epithelial injury and bronchial dysfunction. Clara Cell Protein 16 concentrations have been determined in both serum and bronchoalveolar lavage fluid in numerous studies since 1994. In serum, its increase is associated with age, asbestos, nitrogen chloride and ozone exposure, sarcoidosis and high PEEP ventilation. Decreased serum CC16 levels are found after pulmonary resection, in silica-exposed workers, smokers and in asthma. Decreased CC16 concentrations were also found in the amniotic fluid of fetuses suffering from pulmonary hypoplasia caused by various mechanisms (diaphragmatic hernia, diabetic fetopathy, Turner and Down syndrome). In pleural effusions, the CC16 concentration appears to be associated with its diffusion from the lung as evidenced by high CC16 levels in cardiac pleural congestion.

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 C1orf163 gene product has been provisionally designated C1orf163 pending further characterization.

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

Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The FAM96B gene product has been provisionally designated FAM96B 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.

Supplier: Bioss

The cytochrome c oxidase (COX) family of proteins function as the final electron donor in the respiratory chain to drive a proton gradient across the inner mitochondrial membrane, ultimately resulting in the production of water. C1orf31 is a 125 amino acid mitochondrial protein that belongs to the cytochrome c oxidase subunit 6B family. There are three isoforms of C1orf31 that are produced as a result of alternative splicing events. The gene encoding C1orf31 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 3000 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.

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 signaling 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 localization. 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

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 characterized 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

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

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

Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. ELL3 is a 397 amino acid nuclear protein that functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. Though similar to ELL and ELL2, ELL3 is exclusively expressed in testis.