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Bioss
Numéro de catalogue:
(BOSSBS-3445R-CY5.5)
Fournisseur:
Bioss
Description:
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1733R-CY3)
Fournisseur:
Bioss
Description:
Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of these downstream effectors by MET leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. The RAS-ERK activation is associated with the morphogenetic effects while PI3K/AKT coordinates prosurvival effects. During embryonic development, MET signaling plays a role in gastrulation, development and migration of muscles and neuronal precursors, angiogenesis and kidney formation. In adults, participates in wound healing as well as organ regeneration and tissue remodeling. Promotes also differentiation and proliferation of hematopoietic cells. Acts as a receptor for Listeria internalin inlB, mediating entry of the pathogen into cells.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4260R-A350)
Fournisseur:
Bioss
Description:
ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8345R-CY3)
Fournisseur:
Bioss
Description:
FOP, is a 399 amino acid protein that localizes to the centrosome and contains one LisH domain. Expressed ubiquitously with highest expression in kidney, heart, muscle, colon, liver, testis and pancreas, FOP functions as a homodimer that interacts with EB1 and CEP350 and is essential for anchoring microtubules to centrosomes. Chromosomal aberrations that involve the FOP gene are associated with the pathogenesis of stem cell myeloproliferative disorder (MPD), a condition that is characterized by eosinophilia and myeloid hyperplasia and ultimately leads to acute myeloid leukemia. FOP is expressed as multiple isoforms that are produced by alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8345R-A488)
Fournisseur:
Bioss
Description:
FOP, is a 399 amino acid protein that localizes to the centrosome and contains one LisH domain. Expressed ubiquitously with highest expression in kidney, heart, muscle, colon, liver, testis and pancreas, FOP functions as a homodimer that interacts with EB1 and CEP350 and is essential for anchoring microtubules to centrosomes. Chromosomal aberrations that involve the FOP gene are associated with the pathogenesis of stem cell myeloproliferative disorder (MPD), a condition that is characterized by eosinophilia and myeloid hyperplasia and ultimately leads to acute myeloid leukemia. FOP is expressed as multiple isoforms that are produced by alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9047R-CY3)
Fournisseur:
Bioss
Description:
Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent-specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5-triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage-dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5255R-HRP)
Fournisseur:
Bioss
Description:
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8480R-A680)
Fournisseur:
Bioss
Description:
RBMX2 is a 322 amino acid member of the IST3 family that contains one RRM (RNA recognition motif) domain. The RBMX2 gene is intronless, conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, N.crassa, A.thaliana, rice and P.falciparum, and maps to human chromosome Xq25. The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions that affect males more frequently as males carry a single X chromosome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3034R-CY5.5)
Fournisseur:
Bioss
Description:
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15024R-CY7)
Fournisseur:
Bioss
Description:
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 C1orf146 gene product has been provisionally designated C1orf146 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-2495R-CY7)
Fournisseur:
Bioss
Description:
Receptor for TNFSF8/CD3L. May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0653R-CY3)
Fournisseur:
Bioss
Description:
Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0653R-A488)
Fournisseur:
Bioss
Description:
Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0577R-CY7)
Fournisseur:
Bioss
Description:
The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13319R-A350)
Fournisseur:
Bioss
Description:
Belonging to the glycosyltransferase 14 family, GCNT7, also known as Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7, is a 430 amino acid glycosyltransferase that is localized to the Golgi apparatus. Other members of this family include GCNT1, GCNT2, GCNT3, GCNT4 and GCNT6. GCNT1 has been shown to play an important regulatory role in the biosynthesis of mucin-type O-glycans, which serve as ligands in cell adhesion. Specifically, GCNT1 expression in leukocytes regulates the synthesis of core 2 O-glycans that carry sialyl-Lewis x (sLex) oligosaccharides, which confer high affinity binding to Selectin proteins. Since downregulation of Selectin ligand expression has been shown to inhibit tissue infiltration, glycosyltransferase 14 family members represent potential drug targets for the treatment of inflammatory disorders and other pathologies involving Selectin proteins.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-2495R-CY5.5)
Fournisseur:
Bioss
Description:
Receptor for TNFSF8/CD3L. May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B.
UOM:
1 * 100 µl
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