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Numéro de catalogue:
(BOSSBS-9743R-CY3)
Fournisseur:
Bioss
Description:
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKLE2 (ankyrin repeat and LEM domain containing 2), also known as LEMD7, is a 938 amino acid single-pass membrane protein containing an ANK repeat and a LEM domain. Exsiting as two isoforms produced by alternative splicing events, the gene encoding ANKLE2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12122R-CY3)
Fournisseur:
Bioss
Description:
Voltage-gated sodium channels are selective ion channels that regulate the permeability of sodium ions in excitable cells. During the propagation of an action potential, sodium channels allow an influx of sodium ions, which rapidly depolarizes the cell. Na+ CP type II beta(sodium channel, voltage-gated, type II, beta), also known as SCN2B, is a 215 amino acid single-pass type I membrane protein that plays a critical role in the expression and assembly of the heterotrimeric complex of the sodium channel and interacts with Tenascin-R to influence the clustering and regulation of sodium channels at nodes of Ranvier. Expressed specifically in brain, Na+ CP type II beta contains one Ig-like C2-type (immunoglobulin-like) domain and is encoded by a gene that maps to human chromosome 11q23.3 and mouse chromosome 9 A5.2.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11862R-CY5)
Fournisseur:
Bioss
Description:
DYX2 is a 1072 amino acid single-pass transmembrane protein that contains one MANSC domain and two PKD (Polycystic Kidney Disease) domains, which are usually found in the extracellular regions of proteins and are involved in protein-protein interactions. In DYX2, it is likely that its PKD domains mediate the interaction between neurons and glial fibers during neuronal migration. When overexpressed, this plasma membrane protein colocalizes with EEA1 (early endosome antigen 1) in large intracellular vesicles, suggesting that it is endocytosed and recycled. DYX2 is highly expressed in brain cortex, cerebellum, amygdala, putamen and hippocampus. Defects in the gene encoding DYX2 may be the cause of dyslexia type 2, a relatively common disorder that is characterized by reading performance impairment in the absence of sensory or neurologic disability. There are three isoforms of DYX2 that are produced as a result of alternative splicing events
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11862R-CY3)
Fournisseur:
Bioss
Description:
DYX2 is a 1072 amino acid single-pass transmembrane protein that contains one MANSC domain and two PKD (Polycystic Kidney Disease) domains, which are usually found in the extracellular regions of proteins and are involved in protein-protein interactions. In DYX2, it is likely that its PKD domains mediate the interaction between neurons and glial fibers during neuronal migration. When overexpressed, this plasma membrane protein colocalizes with EEA1 (early endosome antigen 1) in large intracellular vesicles, suggesting that it is endocytosed and recycled. DYX2 is highly expressed in brain cortex, cerebellum, amygdala, putamen and hippocampus. Defects in the gene encoding DYX2 may be the cause of dyslexia type 2, a relatively common disorder that is characterized by reading performance impairment in the absence of sensory or neurologic disability. There are three isoforms of DYX2 that are produced as a result of alternative splicing events
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9551R)
Fournisseur:
Bioss
Description:
BEND2 is a 799 amino acid protein that contains two BEN domains. BEND2 exists as two alternatively spliced isoforms and is considered a complete proteome. BEN domain mediates protein–DNA and protein–protein interactions during chromatin organization and transcription. BEN domain may play a role in organization of viral DNA during replication or transcription. The BEND2 gene maps to human chromosome Xp22.13. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The X and Y chromosomes are the human sex chromosomes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BTIUBNUM0706-50)
Fournisseur:
Biotium
Description:
Tumor Necrosis Factor Alpha (TNF alpha) is a protein secreted by lipopolysaccharide-stimulated macrophages, and causes tumor necrosis when injected into tumor bearing mice. TNF alpha is believed to mediate pathogenic shock and tissue injury associated with endotoxemia. TNF alpha exists as a multimer of two, three, or five non-covalently linked units, but shows a single 17 kDa band following SDS PAGE under non-reducing conditions. TNF alpha is closely related to the 25 kDa protein Tumor Necrosis Factor beta (lymphotoxin), sharing the same receptors and cellular actions. TNF alpha causes cytolysis of certain transformed cells, being synergistic with interferon gamma in its cytotoxicity. Although it has little effect on many cultured normal human cells, TNF alpha appears to be directly toxic to vascular endothelial cells. Other actions of TNF alpha include stimulating growth of human fibroblasts and other cell lines, activating polymorphonuclear neutrophils and osteoclasts, and induction of interleukin 1, prostaglandin E2 and collagenase production.
UOM:
1 * 50 µl
Numéro de catalogue:
(BOSSBS-0836R-CY7)
Fournisseur:
Bioss
Description:
Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12321R-FITC)
Fournisseur:
Bioss
Description:
Tect3 is a 607 amino acid single-pass type I membrane protein that belongs to the tectonic family and exists as four alternatively spliced isoforms. Tect3 interacts with MKS1 and may be involved in apoptosis regulation. The gene that encodes Tect3 contains approximately 31,560 bases and maps to human chromosome 10q24.1. Spanning nearly 135 million base pairs and encoding nearly 1,200 genes, chromosome 10 makes up approximately 4.5% of the human genome. Several protein-coding genes, including those that encode chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, Cockayne syndrome, multiple endocrine neoplasia type 2 and porphyria. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0836R-CY3)
Fournisseur:
Bioss
Description:
Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11332R)
Fournisseur:
Bioss
Description:
Glutamic acid rich protein (GARP) is a soluble protein localized to the outer segments of the rod photoreceptor. It forms a subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. There are 3 isoforms produced by alternative splicing. Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties; it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit. Defects in GARP are the cause of retinitis pigmentosa type 25 (RP25). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9331R)
Fournisseur:
Bioss
Description:
Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive disease characterized by grand mal seizures and/or myoclonus at about 15 years of age. Rapid and severe mental deterioration follows, often with psychotic features. Survival is less than 10 years after onset. Starch-like, endoplasmic reticulum-associated polyglucosans, called Lafora bodies, can be observed in brain, muscle, liver and heart. One cause of Lafora disease is due to mutations in NHLRC1, the gene encoding Malin. Forty-nine different mutations in NHLRC1 have been shown to cause EPM2. Malin, also called NHL repeat-containing protein 1, is a single subunit E3 ubiquitin ligase, containing 6 NHL repeats and 1 RING-type zinc finger. Malin’s RING domain is responsible for its ability to mediate ubiquitination. Malin interacts with and polyubiquitinates Laforin, a protein also implicated in EPM2. Malin localizes to the endoplasmic reticulum and, to a lesser extent, in the nucleus. Malin is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9503R)
Fournisseur:
Bioss
Description:
This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15343R-CY7)
Fournisseur:
Bioss
Description:
C9orf79 is a 1445 amino acid single-pass membrane protein that belongs to the FAM75 family. The gene encoding C9orf79 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12947R-CY5)
Fournisseur:
Bioss
Description:
CRP2BP is a 782 amino acid protein encoded by the human gene CSRP2BP. CRP2BP specifically interacts with the double LIM domain protein CRP2. The LIM domain is a conserved cysteine and histidine-containing structural module of two tandemly arranged zinc fingers. It has been identified in single or multiple copies in a variety of regulatory proteins, either in combination with defined functional domains, like homeodomains, or alone, like in the CRP family of LIM proteins. Members of the cysteine- and glycine-rich protein family (CRP1, CRP2 and CRP3) contain two zinc-binding LIM domains, LIM1 (amino-terminal) and LIM2 (carboxyl-terminal), and are implicated in diverse cellular processes linked to differentiation, growth control and pathogenesis. Although present in cytoplasm, CRP2BP is mainly a ubiquitously expressed nuclear protein, with highest expression in skeletal muscle and heart.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15343R-HRP)
Fournisseur:
Bioss
Description:
C9orf79 is a 1445 amino acid single-pass membrane protein that belongs to the FAM75 family. The gene encoding C9orf79 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13162R-A680)
Fournisseur:
Bioss
Description:
Ficolin B is the designation in mouse and rat of a protein also known as L-ficolin, ficolin-2, collagen/fibrinogen domain-containing protein 2, serum lectin p35, EBP-37 or hucolin. Ficolin B is a 313 amino acid member of the ficolin lectin family. It is a secreted innate immunity pattern recognition molecule expressed in liver and plasma that forms a disulfide-linked homopolymer. This extensive N-terminal disulfide bridge formation can lead to a functional dodecamer polypeptide. Ficolin B binds to DNA ligands expressed by late apoptotic and necrotic cells to increase attachment and engulfment. Variation in ficolin B concentrations amongst individuals is associated with polymorphisms in the promoter and structural portion of the FCN2 gene. In patients with Beht's disease (BD), there exists a significant difference in allele frequency for FCN2 gene single nucleotide polymorphisms (SNPs) within the -557 and -64 promoter sites within HLA-B51 positive and HLA-B51 negative subgroups.
UOM:
1 * 100 µl
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