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Bioss
Numéro de catalogue:
(BOSSBS-6305R)
Fournisseur:
Bioss
Description:
The Ryanodine Receptor (RyR) is the channel responsible for calcium release from muscle cell Sarcoplasmic Reticulum (SR) and also plays a role in calcium regulation in non-muscle cells. The RyR exists as a homotetramer and is predicted to have a short cytoplasmic C-terminus and 4-10 transmembrane domains. The remainder of the protein, termed the "foot" region, is located in the cytoplasm between the transverse tubule and the SR. Mammalian RyR isoforms are the product of three different genes: RyR-1 is expressed predominantly in skeletal muscle and areas of the brain; RyR-2 is expressed predominantly in heart muscle but also found in the stomach, endothelial cells and diffuse areas of the brain; and RyR-3 is found in smooth muscle and the brain (striatum, thalamus and hippocampus). In non-mammalian vertebrates, the RyR isoforms are termed alpha, beta and cardiac which correlate loosely to the mammalian RyR-1, RyR-3 and RyR-2 isoforms respectively.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9094R-A488)
Fournisseur:
Bioss
Description:
AHNAK2 contains 1 PDZ (DHR) domain. There are 3 named isoforms of AHNAK2 produced by alternative splicing. AHNAK2 is a 600-kDa protein composed of a large number of highly conserved repeat segments. AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9682R-A350)
Fournisseur:
Bioss
Description:
C19orf46 is a 404 amino acid single-pass type IV membrane protein that belongs to the nesprin family. C19orf46 partcipates in the establishment of secretory epithelial morphology by inducing kinesin-dependent apical migration of the centrosome and Golgi apparatus as well as basal localization of the nucleus. C19orf46 interacts with UKHC and KCL1, and exists as two alternatively spliced isoforms. C19orf46 contains a KASH domain, which consists of a transmembrane motif, mediates nuclear enevelop targeting and binds to the SUN domain of SUN1 and SUN2. C19orf46 is encoded by a gene located on human chromosome 19, which consists of approximately 63 million bases and makes up over 2% of human genomic DNA.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9093R-A750)
Fournisseur:
Bioss
Description:
AIM1L.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5241R-HRP)
Fournisseur:
Bioss
Description:
Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP). Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9093R-CY3)
Fournisseur:
Bioss
Description:
AIM1L
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15098R)
Fournisseur:
Bioss
Description:
Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf165 gene product has been provisionally designated C20orf165 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5018R)
Fournisseur:
Bioss
Description:
ACADVL (acyl-Coenzyme A dehydrogenase, very long chain) catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. It is specific to esters of long-chain and very long chain fatty acids such as palmitoyl-CoA and stearoyl-CoA. Deficiencies in ACADVL are associated with reduced myocardial fatty acid beta-oxidation and cardiomyopathy.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3345R)
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-12518R-A555)
Fournisseur:
Bioss
Description:
Eukaryotic translation initiation factor 2C (eIF2C) proteins (argonaute family) influence RNA interference (RNAi) as components of the RNA-inducible silencing complex (RISC) or microRNA (miRNA)-containing ribonucleoprotein particle (miRNP). Small RNAs, including small interfering RNAs (siRNAs) and miRNAs, can silence target genes through mechanisms that utilize RISC or miRNP particles. eIF2C1 (argonaute 1, AGO1, eIF2C, GERP95, Q99) and Dicer1 play a coordinated role in siRNA-mediated gene silencing. eIF2C2 (Slicer, argonaute 2, AGO2, Q10) is a RISC component that can concentrate in cytoplasmic processing bodies (P-bodies) and catalyze mRNA cleavage. Mammalian P-bodies contain mRNAs and have an association with miRNA-induced translational silencing and siRNA-induced mRNA degradation. Additional eIF2C proteins include eIF2C3 (argonaute 3, AGO3), eIF2C4 (argonaute 4, AGO4) and meIF2c5 (mouse argonaute 5).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9266R-A680)
Fournisseur:
Bioss
Description:
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterised.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBSM-2313M-A750)
Fournisseur:
Bioss
Description:
This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12471R-A680)
Fournisseur:
Bioss
Description:
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12471R-HRP)
Fournisseur:
Bioss
Description:
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12471R-CY5)
Fournisseur:
Bioss
Description:
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9266R-A647)
Fournisseur:
Bioss
Description:
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
UOM:
1 * 100 µl
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