"Bioss"

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BCL2 is an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants (alpha and beta) produced by alternate splicing, differ in their C-terminal ends. BCL2 suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. It regulates cell death by controlling the mitochondrial membrane permeability. It appears to function in a feedback loop system with caspases. BCL2 inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF1). It can form homodimers, and heterodimers with BAX, BAD, BAK and BclX(L). Heterodimerization with BAX requires intact BH1 and BH2 domains, and is necessary for anti-apoptotic activity. Also interacts with APAF1, RAF1, TP53BP2, BBC3, BCL2L1 and BNIPL

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Methylation at the 5'-position of cytosine is the only known naturally occurring covalent modification of the mammalian genome. DNA methylation requires the enzymatic activity of DNA 5-cytosine methyltransferase (Dnmt) proteins, which catalyze the transfer of a methyl group from S-adenosyl methionine to the 5'-position of cytosines residing in the dinucleotide CpG motif, and this methylation results in transcriptional repression of the target gene. The Dnmt enzymes are encoded by independent genes. Dnmt1 is the most abundant, and it preferentially methylates hemimethylated DNA and coordinates gene expression during development. Additional mammalian Dnmt proteins include Dnmt2 and Dnmt3. Dnmt2 lacks the large N-terminal regulator domain of Dnmt1, is expressed at substantially lower levels in adult tissues, and is likely involved in methylating newly integrated retroviral DNA. Dnmt3a and Dnmt3b are encoded by two distinct genes, but both are abundantly expressed in embryonic stem cells, where they also methylate CpG motifs on DNA.

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Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates gluconeogenesis as a component of the LKB1/AMPK/TORC2 signaling pathway. Regulates the expression of specific genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR).

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Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.

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This gene encodes a subunit of the elongation factor-1complex, which is responsible for the enzymatic delivery ofaminoacyl tRNAs to the ribosome. This subunit, delta, functions asguanine nucleotide exchange factor. It is reported that followingHIV-1 infection, this subunit interacts with HIV-1 Tat. Thisinteraction results in repression of translation of host cellproteins and enhanced translation of viral proteins. Severalalternatively spliced transcript variants encoding multipleisoforms have been found for this gene. Related pseudogenes havebeen defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided byRefSeq, Aug 2010].

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Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize gp130 for initiating signal transmission. Binds to IL6/IL6R (alpha chain) complex, resulting in the formation of high-affinity IL6 binding sites, and transduces the signal. Does not bind IL6. May have a role in embryonic development.

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Plays a role in the incorporation of pigments into hair. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity).

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Actin filament associated protein (AFAP-110) interacts directly with actin filaments through its C-terminal actin-binding domain. AFAP-110 contains additional protein-binding domains as well, and serves as an adaptor protein. By linking signaling molecules to actin filaments, AFAP-110 provides a platform for the preparation of larger signaling complexes, activates Src kinases in response to cellular signals and also directly affects Actin organization as an Actin filament cross-linking protein. AFAP-1L2 (Actin filament-associated protein 1-like 2), also known as XB130, is a 818 amino acid cytoplasmic protein that contains two Pleckstrin homology (PH) domains, which are normally found in proteins involved in intracellular signaling. Like its relative AFAP110, AFAP-1L2 interacts with Src kinase and may play a role in Src-regulated transcription activation. AFAP-1L2 is expressed in thyroid and spleen and can also be detected at lower levels in lung, brain, pancreas and kidney. There are four isoforms of AFAP-1L2 that are produced as a result of alternative splicing events.

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Gross cystic disease is a common premenopausal disorder in which gross cysts are the predominant pathologic lesion. It is characterised by production of a fluid secretion which accumulates in the breast cysts. Gross cystic disease fluid is a pathologic secretion from breast composed of several glycoproteins, including a unique 15 kDa monomer protein, GCDFP 15. The cells within the body that produce GCDFP 15 appear to be restricted primarily to those with apocrine function. Studies have found GCDFP 15 to be a highly specific and sensitive marker for breast cancer.

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Dyrk (for dual specificity tyrosine phosphorylation regulated kinase) is the homolog of the Drosophila mnb (minibrain) gene, which is required for neurogenesis. Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation. Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases. Dyrk family members, including Dyrk1A (originally Dyrk), Dyrk1B, Dyrk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions. Two isoforms of human fetal brain Dyrk2 exist: a deduced 528-amino acid protein and a protein containing 73 additional amino acids at the amino terminus. Dyrk3 is strongly expressed in testis, only after the onset of spermatogenesis, and very weakly expressed in spleen and adrenal gland. The genes which encode Dyrk2 and Dyrk3 map to human chromosomes 12 and 1q32, respectively.

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Glycolysis is an evolutionarily conserved series of ten chemical reactions that utilizes eleven enzymes to concomitantly generate pyruvate and ATP from glucose. fructose kinase-2/fructose 2,6-bisphosphatase (PFK-2) stimulates the synthesis and degradation of fructose 2,6-bisphosphate. Glycogen phosphorylase (also known as GP) is an allosteric enzyme important in carbohydrate metabolism. Its activity is regulated through either noncovalent binding of metabolites or by covalent modification. Glycogen phosphorylase catalyzes the phosphorylation of glycogen to Glc-1-P. There are three genes which encode the brain, liver and muscle forms of glycogen phosphorylase, PYGB, PYGL and PYGM. Because of its fundamental role in the metabolism of glycogen, glycogen phosphorylase has been a target for the design of inhibitory compounds, which could be valuable in the therapeutic treatment of type 2 diabetes mellitus.

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Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade.

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The EF-hand domain is a twelve amino acid loop motif that is commonly found in proteins that participate in calcium-binding events within the cell. EF-hand domains generally exist in a pair that, together, form a stable four-helix bundle that enables the binding of calcium ions. Swiprosin-2, also known as EFHD1 (EF-hand domain-containing protein D1), SWS2, PP3051 or MST133, is a 239 amino acid protein that contains two EF-hand domains and is expressed in a wide variety of tissues, including brain, liver, heart, kidney, testis, ovaries and spleen. Expression of Swiprosin-2, a possible calcium-binding protein, is upregulated during neuronal differentiation, suggesting a role for Swiprosin-2 in brain development and maturation.

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Anti-BCAS2 Rabbit Polyclonal Antibody

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Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered 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. The C9orf71 gene product has been provisionally designated C9orf71 pending further characterization.

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Essential bifunctional enzyme that catalyses both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA dissacharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response.