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Bioss
Numéro de catalogue:
(BOSSBS-12544R-A750)
Fournisseur:
Bioss
Description:
The bifunctional purine biosynthesis protein ATIC (also designated PURH) contains AICAR transformylase and IMP cyclohydrolase activities. AICAR (5-aminoimidazole-4-carboxamide ribonucleotide) transformylase catalyses the second to last step in purine biosynthesis, playing an important role in the production of nucleotides and IMP. Defects in the ATIC transformylase gene can cause AICA-rebsuria, also designated AICA-ribosiduria, an inborn error in purine biosynthesis that is neurologically cataclysmic. Individuals with AICA-rebosuria accumulate AICA-riboside, also designated ZMP, and its derivatives in erythrocytes and fibroblasts. Patients also excrete very large amounts of AICA-riboside in the urine. Mental retardation, epilepsy, dysmorphic features and congenital blindness are all symptoms of this disease.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12544R-A555)
Fournisseur:
Bioss
Description:
The bifunctional purine biosynthesis protein ATIC (also designated PURH) contains AICAR transformylase and IMP cyclohydrolase activities. AICAR (5-aminoimidazole-4-carboxamide ribonucleotide) transformylase catalyzes the second to last step in purine biosynthesis, playing an important role in the production of nucleotides and IMP. Defects in the ATIC transformylase gene can cause AICA-rebsuria, also designated AICA-ribosiduria, an inborn error in purine biosynthesis that is neurologically cataclysmic. Individuals with AICA-rebosuria accumulate AICA-riboside, also designated ZMP, and its derivatives in erythrocytes and fibroblasts. Patients also excrete very large amounts of AICA-riboside in the urine. Mental retardation, epilepsy, dysmorphic features and congenital blindness are all symptoms of this disease.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9323R-A680)
Fournisseur:
Bioss
Description:
The nuclear pore complex protein, Ran-binding protein 2 (Ran BP-2 or Nup358), contains four Ran-binding domains. Ran BP-2 is a large scaffold cyclophilin-related protein expressed in photoreceptor cells. Ran BP-2 localisation at cytoplasmic fibrils emanating from the nuclear pore complex and interaction with the Ran-GTPase support its role in nucleocytoplasmic transport processes. In humans, the Ran BP-2 gene is partially duplicated in a gene cluster and lies in a hot spot for recombination on chromosome 2q. This genetic heterogeneity renders further significance of this genomic region in human disease due to its possible involvement in genetically linked disorders such as juvenile nephronophthisis, congenital hepatic fibrosis and chorioretinal dysplasia.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11416R-A680)
Fournisseur:
Bioss
Description:
The Cpt1 family of proteins are outer mitochondrial membrane proteins that regulate the entry into, and oxidation of fatty acids by, mitochondria. Malonyl-CoA, an intermediate in fatty acid synthesis, has been implicated as a regulatory component of the energy sensing system that feeds into hypothalmic neurons to impart energy homeostasis. Malonyl-CoA levels in the hypothalamus are dynamically regulated by fasting and feeding, altering subsequent feeding behavior. Cpt1c, the brain-specific carnitine O-palmitoyltransferase 1, is thought to relay information about malonyl-CoA levels in hypothalamic neurons that express orexigenic and anorexigenic neuropeptides that regulate food intake and peripheral energy expenditure. Unlike other Cpt1 proteins, Cpt1c binds Malonyl-CoA but does not catalyse the transfer of the malonyl group from CoA to carnitine.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3921R-A750)
Fournisseur:
Bioss
Description:
The ADCY4 gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyse the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3922R-CY5.5)
Fournisseur:
Bioss
Description:
This is a membrane-bound, calcium-inhibitable adenylyl cyclase.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15299R-A680)
Fournisseur:
Bioss
Description:
May be involved in tumor progression.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11272R-FITC)
Fournisseur:
Bioss
Description:
Wolfram syndrome protein (WFS1) is an 890 amino acid protein that contains a cytoplasmic N-terminal domain, followed by nine-transmembrane domains and a luminal C-terminal domain. WFS1 is predominantly localized to the endoplasmic reticulum (ER) (1) and its expression is induced in response to ER stress, partially through transcriptional activation (2,3). Research studies have shown that mutations in the WFS1 gene lead to Wolfram syndrome, an autosomal recessive neurodegenerative disorder defined by young-onset, non-immune, insulin-dependent diabetes mellitus and progressive optic atrophy (4).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3456R-A555)
Fournisseur:
Bioss
Description:
Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand, it can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival. Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation. Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades driving cell survival and differentiation. Through SHC1 and FRS2 activates a GRB2-Ras-MAPK cascade that regulates cell differentiation and survival. Through PLCG1 controls NF-Kappa-B activation and the transcription of genes involved in cell survival. Through SHC1 and SH2B1 controls a Ras-PI3 kinase-AKT1 signaling cascade that is also regulating survival. In absence of ligand and activation, may promote cell death, making the survival of neurons dependent on trophic factors. Isoform TrkA-III is resistant to NGF, constitutively activates AKT1 and NF-kappa-B and is unable to activate the Ras-MAPK signaling cascade. Antagonizes the anti-proliferative NGF-NTRK1 signaling that promotes neuronal precursors differentiation. Isoform TrkA-III promotes angiogenesis and has oncogenic activity when overexpressed.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-7525R-CY5.5)
Fournisseur:
Bioss
Description:
This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-2617R-A488)
Fournisseur:
Bioss
Description:
Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway. Binds two calcium ions per subunit. Binds one copper ion. Binding of one copper ion does not interfere with calcium binding. Required for the copper-dependent stress-induced export of IL1A and FGF1. The calcium-free protein binds to lipid vesicles containing phosphatidylserine, but not to vesicles containing phosphatidylcholine (By similarity).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6338R-HRP)
Fournisseur:
Bioss
Description:
This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-2617R-CY7)
Fournisseur:
Bioss
Description:
Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway. Binds two calcium ions per subunit. Binds one copper ion. Binding of one copper ion does not interfere with calcium binding. Required for the copper-dependent stress-induced export of IL1A and FGF1. The calcium-free protein binds to lipid vesicles containing phosphatidylserine, but not to vesicles containing phosphatidylcholine (By similarity).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6338R-A680)
Fournisseur:
Bioss
Description:
This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13850R-A680)
Fournisseur:
Bioss
Description:
Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. May play a role in centriole duplication during mitosis (By similarity).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6949R-CY7)
Fournisseur:
Bioss
Description:
The complement component proteins, C3, C4 and C5, are potent anaphylatoxins that are released during complement activation. Binding of these proteins to their respective G protein-coupled receptors, C3aR, C1R and C5aR, induces proinflammatory events, such as cellular degranulation, smooth muscle contraction, arachidonic acid metabolism, cytokine release, leukocyte activation and cellular chemotaxis. Complement Factor B, also designated Properdin Factor B or PBF2, is part of the alternate pathway of the complement system and is cleaved by Factor D into two fragments: Ba and Bb. Bb combines with complement Factor 3b to produce the C3 or C5 convertase and plays a role in the differentiation and proliferation of preactivated B lymphocytes, lysis of erythrocytes, stimulation of lymphocyte blastogenesis and rapid spreading of peripheral blood monocytes. Ba is important in inhibiting the proliferation of preactivated B lymphocytes. Adipsin, also designated complement Factor D, is a serine protease that cleaves complement Factor B and may be involved in obesity. Factor H controls the function of the alternative complement pathway. FHR-1 (complement Factor H related protein 1) may play a role in lipid metabolism.
UOM:
1 * 100 µl
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