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Bioss
Numéro de catalogue:
(BOSSBS-8079R-CY5)
Fournisseur:
Bioss
Description:
Chromosome 22 contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia. CCDC134 (coiled-coil domain containing 134), also known as MGC21013 or FLJ22349, is a 229 amino acid protein encoded by a gene mapping to human chromosome 22.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4065R-CY5.5)
Fournisseur:
Bioss
Description:
Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9457R-CY3)
Fournisseur:
Bioss
Description:
The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12366R-A555)
Fournisseur:
Bioss
Description:
SUMF1 is a 374 amino acid alternatively spliced protein that localizes to the lumen of the endoplasmic reticulum and belongs to the sulfatase-modifying factor family. Expressed ubiquitously with highest expression in liver, kidney and pancreas, SUMF1 exists as either a monomer, a homodimer or a heterodimer (with SUMF2) and functions to oxidize sulfatase cysteine residues to an active FGIy residue, thereby playing an important role in sulfatase activity. Defects in the gene encoding SUMF1 are the cause of multiple sulfatase deficiency (MSD), a heterogeneous disorder characterized by metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12365R-FITC)
Fournisseur:
Bioss
Description:
The Six proteins (sine oculis) are a family of homeodomain transcription factors that share a conserved DNA binding domain. Six2, Six4 (AREC3) and Six5 bind to the same DNA sequence, indicating that they may regulate the same target genes. Six1 and Six4 are both capable of transactivating MEF3 site containing reporter genes, such as myogenin. It has been demonstrated that alterations to homeobox-containing genes may result in cancer. Six1 expression has been shown to be absent or low in normal adult tissues, although it is expressed in several tumor types, including breast carcinoma. Six1 overexpression has been shown to abrogate the G2 cell cycle checkpoint. Six2 is highly expressed in fetal tissues but expression is limited in adult tissues.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7006R-A750)
Fournisseur:
Bioss
Description:
GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7010R-A488)
Fournisseur:
Bioss
Description:
SDCCAG10 belongs to the cyclophilin-type PPIase family and contains 1 PPIase cyclophilin-type domain. There are two isoforms. PPIases accelerate the folding of proteins.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7010R-A350)
Fournisseur:
Bioss
Description:
SDCCAG10 belongs to the cyclophilin-type PPIase family and contains 1 PPIase cyclophilin-type domain. There are two isoforms. PPIases accelerate the folding of proteins.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15048R-A750)
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 C1orf189 gene product has been provisionally designated C1orf189 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3345R-CY5)
Fournisseur:
Bioss
Description:
Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of APC/C inhibitors, and the regulation of mitotic exit and cytokinesis. Required for recovery after DNA damage checkpoint and entry into mitosis. Required for kinetochore localization of BUB1B. Phosphorylates SGOL1. Required for spindle pole localization of isoform 3 of SGOL1 and plays a role in regulating its centriole cohesion function. Phosphorylates BORA, and thereby promotes the degradation of BORA. Contributes to the regulation of AURKA function. Regulates TP53 stability through phosphorylation of TOPORS. Phosphorylates NEDD1. NEDD1 phosphorylation promotes subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. Phosphorylates both ECT2 and RACGAP1, and thereby stimulates their interaction that is essential for the cleavage furrow formation. Promotes the central spindle recruitment of ECT2.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15501R-HRP)
Fournisseur:
Bioss
Description:
PCSK4 is a member of the subtilisin-like proprotein convertase family. These enzymes process latent precursor proteins into their biologically active products. The encoded protein plays a critical role in reproduction and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein (proPACAP) and pro-insulin-like growth factor II.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7828R-A555)
Fournisseur:
Bioss
Description:
RINT1 is involved in the regulation of membrane traffic between the golgi and the endoplasmic reticulum. It may play a role in cell cycle checkpoint control and is essential for telomere length control.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3873R-A488)
Fournisseur:
Bioss
Description:
ATG4A is a cysteine protease required for autophagy, which cleaves the C-terminal part of either MAP1LC3, GABARAPL2 or GABARAP, allowing the liberation of form I. A subpopulation of form I is subsequently converted to a smaller form (form II). Form II, with a revealed C-terminal glycine, is considered to be the phosphatidylethanolamine (PE)-conjugated form, and has the capacity for the binding to autophagosomes.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3872R-HRP)
Fournisseur:
Bioss
Description:
Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7827R-A750)
Fournisseur:
Bioss
Description:
Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'-monophosphates containing purine bases are preferred to those containing pyrimidine bases.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11217R-FITC)
Fournisseur:
Bioss
Description:
Myotubularin-related protein 14 (MTMR14), also known as Jumpy, is a myotubularin-related phosphoinositol-3-phosphate (PI3P) phosphatase (1). Mutations in the MTMR14 gene have been associated with centronuclear myopathy (1). MTMR14 deficiency in mice leads to altered calcium homeostasis and muscle disorders (2). MTMR14 has also been shown to play a role in autophagy, a process that is highly regulated by phosphatidylinositides through the type III PI3K, Vps34 (3). MTMR14 was localized to autophagic isolation membranes and early autophagosomes (3). In these studies, MTMR14 inhibited autophagy and mutations of MTMR14 associated with centronuclear myopathy were also defective in autophagy inhibition. In zebrafish, MTMR14 knockdown was shown to increase the number of autophagosomes, suggesting that its activity is associated with an inhibition of autophagy (4).
UOM:
1 * 100 µl
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