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Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGFβ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The C18orf56 gene product has been provisionally designated C18orf56 pending further characterization.

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FANCG, involved in Fanconi anemia, confers resistance to both hygromycin and mitomycin C. FANCG contains a 5-prime GC-rich untranslated region characteristic of housekeeping genes. The putative 622-amino acid protein has a leucine-zipper motif at its N-terminus. Fanconi anemia is an autosomal recessive disorder with diverse clinical symptoms, including developmental anomalies, bone marrow failure, and early occurrence of malignancies. A minimum of 8 FA genes have been identified.

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The claudin superfamily consists of many structurally related proteins in humans. These proteins are important structural and functional components of tight junctions in paracellular transport. Claudins are located in both epithelial and endothelial cells in all tight junction-bearing tissues. Three classes of proteins are known to localize to tight junctions, including the claudins, Occludin and junction adhesion molecules. Claudins, which consist of four transmembrane domains and two extracellular loops, make up tight junction strands. Claudin expression is often highly restricted to specfic regions of different tissues and may have an important role in transcellular transport through tight junctions. Claudin-10 is a 228 amino acid multi-pass membrane protein that belongs to the claudin family and plays an important role in cell-adhesion activity and tight junction-specific events.

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IQCJ (IQ domain-containing protein J) is a 159 amino acid protein that contains one IQ domain. Existing as four alternatively spliced isoforms, the gene encoding IQCJ maps to human chromosome 3q25.32. Chromosome 3 houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

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HABP4.

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Cytokeratins, a group comprising at least 29 different proteins, are characteristic of epithelial and trichocytic cells. Cytokeratins 1, 4, 5, 6, and 8 are members of the type II neutral to basic subfamily. Antibody to cytokeratins are specific markers of epithelial cell differentiation and have been widely used as tools in tumor identification and classification. Anti Pan Cytokeratin (mixture) is a broadly reactive reagent, which recognizes epitopes present in most human epithelial tissues. It facilitates typing of normal, metaplastic and neoplastic cells. Synergy between the various components results in staining amplification. This enables identification of cells, which would otherwise be stained only marginally. The mixture may aid in the discrimination of carcinomas and nonepithelial tumors such as sarcomas, lymphomas and neural tumors. It is also useful in detecting micrometastases in lymph nodes, bone marrow and other tissues and for determining the origin of poorly differentiated tumors. There are two types of cytokeratins the acidic type I cytokeratins and the basic or neutral type II cytokeratins. Cytokeratins are usually found in pairs comprising a type I cytokeratin and a type II cytokeratin. Usually the type II cytokeratins are 8kD larger than their type I counterparts.

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ARFIP2 is a ubiquitously expressed protein implicated in mediating cross talk between RAC and ARF small GTPases. It has been shown that ARFIP2 binds specifically to GTP-bound ARF1 and ARF6, but binds to Rac-GTP and Rac-GDP with similar affinities. The X-ray structure of arfaptin reveals an elongated, crescent-shaped dimer of 3-helix coiled-coils. Structures of arfaptin with Rac bound to either GDP or the slowly hydrolysable analog GMPPNP show that the switch regions adopt similar conformations in both complexes.

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Anti-SP7 Rabbit Polyclonal Antibody

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This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008].

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Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine-specific kinase.

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This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008].

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DNA replication, recombination and repair, all of which are necessary for genomic stability, require the presence of exonucleases (1). In DNA replication, these enzymes are involved in the processing of Okazaki fragments, whereas in DNA repair, they function to excise damaged DNA fragments and correct recombinational mismatches (2). These exonucleases include the family of DNA polymerases (3). DNA pol α, β, ∂, and e are involved in DNA replication and repair (4). DNA pol ∂ and DNA pol e are multisubunit enzymes, with DNA pol ∂ consisting of two subunits p125, which interacts with the sliding DNA clamp protein PCNA, and p50 (5). The nuclear-encoded DNA pol © is the only DNA polymerase required for the replication of the mitochondrial DNA (6). DNA pol Ω is ubiquitously expressed in various tissues and mediates the cellular mechanism of damage-induced mutagenesis (7). DNA pol œ is a DNA polymerase-helicase that binds ATP and is involved in the repair of interstrand crosslinks (8).

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Anti-PMP22 Rabbit Polyclonal Antibody

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Regulates eIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways.

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The three dimensional structure of many extracellular proteins is stabilized by the formation of disulphide bonds. Studies suggest that a microsomal enzyme known as Protein Disulphide Isomerase (PDI) is involved in disulphide-bond formation and isomerization, as well as the reduction of disulphide bonds in proteins. PDI, which catalyses disulphide interchange between thiols and protein dilsulphides, has also been referred to as thiol:protein-disulphide oxidoreductase and as glutathione:insulin transhydrogenase because of its role in reduction of disulphide bonds. The highly conserved sequence Lys-Asp-Glu-Leu (KDEL) is present at the carboxy-terminus of PDI and other soluble endoplasmic reticulum (ER) resident proteins including the 78 and 94 kDa glucose regulated proteins (GRP78 and GRP94 respectively). The presence of carboxy-terminal KDEL appears to be necessary for ER retention and appears to be sufficient to reduce the secretion of proteins from the ER. This retention is reported to be mediated by a KDEL receptor.

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PIST (PDZ protein interacting specifically with TC10), also known as GOPC (golgi associated PDZ and coiled-coil motif containing), CAL or FIG, is a 462 amino acid protein that localizes to the cytoplasm, as well as to the membrane of the golgi apparatus and to the cell junction. Expressed ubiquitously and containing one PDZ (DHR) domain, PIST functions as a homooligomer that interacts with a variety of proteins and plays a role in intracellular protein trafficking and degradation. Additionally, PIST is thought to regulate ionic currents via membrane channel modification and may also play a role in autophagy. Chromosomal aberrations in the gene encoding PIST are found in glioblastoma multiform (GBM), a common and aggressive form of brain tumor, suggesting a role for mutated PIST in carcinogenesis. Three isoforms of PIST exist due to alternative splicing events.