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Bioss
Numéro de catalogue:
(BOSSBS-11221R-CY7)
Fournisseur:
Bioss
Description:
SH3TC2 (SH3 domain and tetratricopeptide repeats 2) is a 1,288 amino acid protein that contains one SH3 domain and eight TPR repeats. The SH3TC2 gene encodes a protein expressed in Schwann cells of peripheral nerves, and localized to the plasma membrane and to the perinuclear endocytic recycling compartment, suggesting a possible function in myelination and/or in regions of axoglial interactions. The SH3TC2 protein is expressed in adult heart, testis, spinal cord, and brain as well as in fetal brain and liver. Mild mononeuropathy of the median nerve (MNMN) is caused by heterozygous mutation in the SH3TC2 gene. Also, Charcot-Marie-Tooth disease type 4C (CMT4C) is a more severe neuropathy caused by homozygous or compound heterozygous mutation in the SH3TC2 gene. Existing as four alternatively spliced isoforms and containing 18 exons, the SH3TC2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 5q32.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3400R-CY5.5)
Fournisseur:
Bioss
Description:
Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373', and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) levels.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4626R-A555)
Fournisseur:
Bioss
Description:
Broad range protease inhibitor.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4626R-CY5)
Fournisseur:
Bioss
Description:
Broad range protease inhibitor.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11813R-CY7)
Fournisseur:
Bioss
Description:
Biotin, also known as vitamin B7, is an essential water-soluble vitamin that is a cofactor in glucogenesis and in the metabolism of fatty acids and leucine. Biotinidase is a 523 amino acid enzyme that catalyzes the hydrolysis of biocytin to biotin and lysine. Secreted into extracellular space, biotinidase is expressed in liver, heart, placenta, brain, skeletal muscle, pancreas and kidney. Biotinidase contains one carbon-nitrogen hydrolase domain, which is involved in the reduction of organic nitrogen compounds and ammonia production. Defects in the gene encoding biotinidase are the cause of biotinidase deficiency, which is characterized by skin rash, ataxia, seizures, hearing loss, hypotonia and optic atrophy. These symptoms are due to the individual’s inability to reutilize biotin and can, therefore, typically be treated with the addition of free biotin.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11872R-A555)
Fournisseur:
Bioss
Description:
Velis are a family of small synaptic proteins that interact with other proteins at the post-synaptic density (PSD) of neuronal synapses. Velis contain the PDZ motif involved in recruiting cell adhesion molecules, receptors, and channels. Veli1 (also designated Lin-7A and MALS-1), Veli2 (also designated Lin-7B and MALS-2), and Veli3 (also designated Lin-7C and MALS-3) are mammalian homologs of C. elegans LIN-7. Veli proteins are ubiquitously expressed with high expression in brain, liver, and testis. Velis are localized at the synaptic junctions in neurons. Velis bind to CASK, a neurexin-binding protein highly concentrated in synapses, and Mint1, a binding partner with a vesicle trafficking protein.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4307R-CY7)
Fournisseur:
Bioss
Description:
Beta-defensins (also designated BD, and hBD in human) are small cationic peptides with broad-spectrum antimicrobial activity. Produced in mucosal epithelia and neutrophils of several species, Beta-defensins are developmentally regulated. Human b-defensin 2 is locally regulated by inflammation and is the first member of the b-defensin family that is locally inducible by inflammation. The murine homolog of human b-defensin 2, which is called b-defensin 3, is present in the respiratory system and in low levels in the epithelial cells of the intestine and lung. The unique murine b-defensin 2 (Defb2) is not expressed in airways of untreated mice, but is upregulated in the airways by lipopolysaccharide and may contribute to host defense at the mucosal surface of the airways
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11107R-CY7)
Fournisseur:
Bioss
Description:
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8248R-A750)
Fournisseur:
Bioss
Description:
May forms part of a complex of membrane proteins attached to acetylcholinesterase (AChE).Tissue specificity:Ubiquitous. Widely expressed in brain.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9748R-A680)
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. ANKRD22 (ankyrin repeat domain 22) is a 191 amino acid protein that contains four ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, ANKRD22 is encoded by a gene that maps to human chromosome 10. Chromosome 10 encodes nearly 1200 genes within 135 million bases, making up approximately 4.5% of the human genome. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in 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, multiple endocrine neoplasia type 2 and porphyria.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9748R-HRP)
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. ANKRD22 (ankyrin repeat domain 22) is a 191 amino acid protein that contains four ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, ANKRD22 is encoded by a gene that maps to human chromosome 10. Chromosome 10 encodes nearly 1,200 genes within 135 million bases, making up approximately 4.5% of the human genome. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in 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, multiple endocrine neoplasia type 2 and porphyria.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9646R-A555)
Fournisseur:
Bioss
Description:
C17orf75 is a 396 amino acid protein that is encoded by a gene mapping to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11536R-FITC)
Fournisseur:
Bioss
Description:
In contrast to the rapid early-onset weight gain seen in ob/ob mice (1-3), mutations in the tub gene lead to obesity gradually and strongly resemble late-onset obesity as seen in the human population (4). In addition to excessive deposition of adipose tissue, mice with the tub phenotype also suffer retinal degeneration and neurosensory hearing loss (4-6). The tripartite character of tubby phenotype is strikingly similar to human obesity syndromes such as Alstr鰉 (5) and Bardet-Biedl (6). A candidate for the tub gene has been described (4). A G芓 transversion in this candidate gene eliminates a donor splice site in the 3' coding region resulting in a larger transcript containing an unspliced intron (4). A second prematurely truncated mRNA transcript with the unspliced intron was found to be expressed in the brains of tubby mice at a 2-3 fold higher rate as compared to B6 mice (4). It has been postulated that the phenotypic features of tubby mice can be attributed to cellular apoptosis triggered by the expression of a mutated tub gene (4).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4042R-HRP)
Fournisseur:
Bioss
Description:
This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq]
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4045R-A350)
Fournisseur:
Bioss
Description:
KHK encodes the gene ketohexokinase that catalyzes conversion of fructose to fructose 1 phosphate. The splice variant presented encodes the highly active form found in liver, renal cortex, and small intestine, while the alternate variant encodes the lower activity form found in most other tissues.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4043R-A750)
Fournisseur:
Bioss
Description:
UGP2 (UDP glucose pyrophosphorylase 2) is an important intermediary in cellular metabolic pathways. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP glucose and MgPPi.
UOM:
1 * 100 µl
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