"Bioss"

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Has growth cone collapse activity against retinal ganglion-cell axons.

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Potent circulating inhibitor of angiogenesis. Could be involved in bone formation. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG.

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Anti-DH-5A Rabbit Polyclonal Antibody

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The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The FAM82A gene product has been provisionally designated FAM82A pending further characterization.

Supplier: Bioss

May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex. Involved in spindle orientation during mitosis it may regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium.Tissue specificity:Isoform 1 is expressed in various tissues with stronger expression in liver, kidney and small intestine. Isoform 2 is abundantly expressed in small intestine and to a lower extent in lung and pancreas.

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Rab proteins, a family of Ras-related small GTP-binding proteins, play a key role in regulating intracellular vesicle trafficking (1?). Rab GDP dissociation inhibitor (Rab GDI or GDI2) forms a soluble complex with Rab proteins and thereby prevents the exchange of GDP for GTP (1?). In mammals, there exist two major isoforms, Rab GDI alpha (also known as XAP-4) and Rab GDI beta (1,4). While the mammalian Rab GDI beta-genes are ubiquitously expressed, the Rab GDI ?genes are predominantly brain-specific (1). Since it is expressed predominantly in neural and sensory tissues, Rab GDI a may serve a specific function in neural signal transmission (5). The gene sequences for the Rab GDI proteins are extremely conserved in evolution, with substantial homology preserved across three eukaryotic kingdoms (5).

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In contrast to the rapid early-onset weight gain seen in ob/ob mice (1-3), mutations in the tub gene lead to obesity gradually and strongly resemble late-onset obesity as seen in the human population (4). In addition to excessive deposition of adipose tissue, mice with the tub phenotype also suffer retinal degeneration and neurosensory hearing loss (4-6). The tripartite character of tubby phenotype is strikingly similar to human obesity syndromes such as Alstr鰉 (5) and Bardet-Biedl (6). A candidate for the tub gene has been described (4). A G芓 transversion in this candidate gene eliminates a donor splice site in the 3' coding region resulting in a larger transcript containing an unspliced intron (4). A second prematurely truncated mRNA transcript with the unspliced intron was found to be expressed in the brains of tubby mice at a 2-3 fold higher rate as compared to B6 mice (4). It has been postulated that the phenotypic features of tubby mice can be attributed to cellular apoptosis triggered by the expression of a mutated tub gene (4).

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FBXW5 is a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. FBXW5 contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented.

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In mammalian cells, translation is controlled at the level of polypeptide chain initiation by initiation factors. Eukaryotic translation initiation factor 1 (eIF1) is crucial for the scanning process in vitro. During the scanning process, eIF1 is a component of a complex involved in recognition of the initiator codon. Translation is also initiated by the role of eIF1 in regulating the activity of ribosomal subunits 43S, 48S and 40S. eIF1 enables 43S ribosomal complexes to discern between cognate and near-cognate initiation codons, sensing the nucleotide content of initiation codons. It is also a promotor, along with eukar-yotic translation initiation factor 1A (eIF1A), for assembly of 48S ribosomal complexes at the initiation codon of a conventional capped mRNA. In addition, eIF1 and eIF1A, together with eukaryotic translation initiation factor 5 (eIF5), function in the formation of stable 40S ribosomal preinitiation complexes.

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Receptor for chemokine SCYA25/TECK. Subsequently transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection.

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Glycogen synthesis is initiated by the autoglucosylation of Glycogenin-1. Specifically, Glycogenin-1 glucosylates itself to begin the synthesis of glycogen in mammalian skeletal muscle. It acts as the primer to which further glucose monomers may be added. All of the Glycogenin-1 molecules contain at least one glucosyl residue before autoglucosylation begins. The first step of the glycogen synthesis occurs when a glucose molecule from UDP-glucose binds to the hydroxyl group of Tyr 194 on the Glycogenin-1 molecule. Using its glucosyltransferase activity, Glycogenin-1 adds more glucoses, each one coming from UDP-glucose. The glycosylation process reaches a plateau when five new glucose residues have been added, at which point glycogen synthase (GS) takes over and further elongates the chain. Glycogenin-1 remains covalently attached to the reducing end of the glycogen molecule.

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TRA16 may act as a repressor of NR2C2-mediated transactivation by suppressing the binding between NR2C2/TR4 and the TR4-response element in target genes.

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Non-receptor protein-tyrosine kinase implicated in signaling pathways involved in cell motility, proliferation and apoptosis. Activated by tyrosine-phosphorylation in response to either integrin clustering induced by cell adhesion or antibody cross-linking, or via G-protein coupled receptor (GPCR) occupancy by ligands such as bombesin or lysophosphatidic acid, or via LDL receptor occupancy. Plays a potential role in oncogenic transformations resulting in increased kinase activity. [SUBCELLULAR LOCATION] Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Constituent of focal adhesions.

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Zinc finger FYVE domain-containing protein 27 (ZFYVE27), also known as SPG33, is a 411 amino acid member of the FYVE-finger family of proteins. The FYVE domain is a cysteine-rich domain of about 70 amino acids that plays a role in the endosomal localization of the FYVE-finger proteins, and a majority of these proteins serve as regulators of endocytic membrane trafficking. ZFYVE27, a multi-pass membrane protein, is an endosomal protein that binds to Spastin, a protein that is primarily involved in microtubule dynamics and severing, vesicular trafficking and endosomal trafficking. Mutations in the gene encoding ZFTVE27 affect neuronal intracellular trafficking in the corticospinal tract and are thought to lead to hereditary spastic paraplegia (HSP), a neurodegenerative disorder, characterized by progressive paralysis of the legs, which is caused by impaired axonal transport. Five isoforms of ZFYVE27 exist as a result of alternative splicing events.

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Junctophilin 4

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C9orf135 (chromosome 9 open reading frame 135) is a 229 amino acid single-pass membrane protein encoded by a gene that maps to human chromosome 9q21.11. 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.