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Batroxobin

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Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates.

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This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesised as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1.

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The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. TRAC-1 (T-cell RING activation protein 1), also known as RNF125 (ring finger protein 125) or E3 ubiquitin-protein ligase RNF125, is a 232 amino acid novel E3 ubiquitin ligase that functions as a positive regulator in the T-cell receptor signaling pathway. Expressed predominantly in lymphoid tissues such as spleen, thymus and bone marrow, TRAC-1 has been found to inhibit pathogen-induced cytokine production and down-regulates HIV replication.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 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 C6orf192 gene product has been provisionally designated C6orf192 pending further characterization.

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Carbonic anhydrase X belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. This protein is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development.

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NCAPG2 is 1 of 3 non-SMC subunits that define condensin II. Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 and SMC4, but they contain different sets of non-SMC subunits. NCAPG2 is 1 of 3 non-SMC subunits that defines condensin II.

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NPR2L is homologous to yeast nitrogen permease and is a candidate tumor suppressor, being a negative regulator of cell cycle. Most abundant in skeletal muscle, followed by brain, liver, and pancreas, with lower amounts in lung, kidney, placenta, and heart. Expressed in most lung cancer cell lines tested. There are two isoforms, produced by alternative splicing.

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The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011].

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Substrate of the antigen receptor-coupled tyrosine kinase. Plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. May also be involved in the regulation of gene expression.

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FAM161B is a 647 amino acid protein that belongs to the FAM161 family. The gene that encodes FAM161B consists of approximately 16,413 bases and maps to human chromosome 14q24.3. Housing over 700 genes, chromosome 14 comprises nearly 3.5% of the human genome. Chromosome 14 encodes the Presenilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer?s disease. The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder 1-antitrypsin deficiency, which is characterised by severe lung complications and liver dysfunction. An inversion of the long arm of chromosome 14 is thought to be involved in T-cell chronic lymphocytic leukemia (CLL), a cancer that affects T lymphocytes.

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Germ cell nuclear factor (GCNF) is an orphan member of the nuclear receptor gene superfamily that influences neurogenesis and germ cell development. GCNF can homodimerize and bind DNA. GCNF regulates paracrine interaction between the oocyte and somatic cells by regulating the expression of BMP-15 and GDF-9, to affect female fertility. GCNF is present in spermatocytes and round spermatids of adult male mouse testis; northern blot and ribonuclease protection assays have shown GCNF is predominant in the testis. The gene expresses three alternatively spliced transcript variants.

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Comprising nearly 4% of human DNA, chromosome 13 contains around 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is quite deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. The LOC728591 gene product has been provisionally designated LOC728591 pending further characterization.

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Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath.

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Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.

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The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. The mammalian HOX gene complex consists of 39 genes that are located on four linkage groups, which are dispersed over four chromosomes. HOX genes that occupy the same relative position along the 5’ to 3’ coordinate (trans-paralogous genes) are more similar in sequence and expression pattern than adjacent HOX genes on the same chromosome. HoxA3, in conjunction with Pax1, mediates the development of the thymus, parathyroid gland, and carotid body. Its expression in the third pharyngeal arch and pouch is required for development of the third arch artery, and homozygous null HoxA3 mutants lack the carotid body. HoxA3 also regulates hindbrain development by controlling the axon projection pattern of motor neurons and sensory neurons of the proximal and distal ganglia.