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Numéro de catalogue:
(BOSSBS-8506R-A647)
Fournisseur:
Bioss
Description:
OSTM1 (osteopetrosis associated transmembrane protein 1), also known as gl (gray-lethal) or HSPC019, is a 338 amino acid single-pass type I membrane protein that is expressed primarily in osteoclasts and melanocytes as well as brain, kidney and spleen. Bone autosomal recessive osteopetrosis (ARO) is the most severe form of hereditary bone disease whose cellular basis is in the osteoclast and is characterized by abnormally dense bone, due to defective resorption of immature bone. ARO is suggested to be caused by mutations in the OSTM1 gene. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Defects in the OSTM1 gene are also the cause of the spontaneous gl mutant, which is responsible for a coat color defect in mice.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8506R-HRP)
Fournisseur:
Bioss
Description:
OSTM1 (osteopetrosis associated transmembrane protein 1), also known as gl (gray-lethal) or HSPC019, is a 338 amino acid single-pass type I membrane protein that is expressed primarily in osteoclasts and melanocytes as well as brain, kidney and spleen. Bone autosomal recessive osteopetrosis (ARO) is the most severe form of hereditary bone disease whose cellular basis is in the osteoclast and is characterized by abnormally dense bone, due to defective resorption of immature bone. ARO is suggested to be caused by mutations in the OSTM1 gene. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Defects in the OSTM1 gene are also the cause of the spontaneous gl mutant, which is responsible for a coat color defect in mice.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9500R-HRP)
Fournisseur:
Bioss
Description:
Hemostasis following tissue injury involves the deployment of essential plasma procoagulants (prothrombin, and factors X, IX, V, and VIII), which are involved in a blood coagulation cascade that leads to the formation of insoluble fibrin clots and the promotion of platelet aggregation (1-3). Coagulation factor IX (plasma thromboplastic component, F9, F.IX, HEMB) is a vitamin K-dependent, single chain serine protease that is synthesized in the liver and circulates as an inactive precursor (3,4). Factor XIa mediated proteolytic cleavage of factor IX generates factor IXa, an active serine protease composed of a 145 amino acid light chain and a 236 amino acid catalytic heavy chain, linked through disulfide bonds (5). Genetic alterations at the Factor IX locus such as point mutations, insertions and deletions, can lead to hemophilia B, also known as Christmas disease (6).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11114R-HRP)
Fournisseur:
Bioss
Description:
Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDH8 (protocadherin-8), also known as Arcadlin or PAPC, is a 1,070 amino acid single-pass type I membrane protein that contains six cadherin domains and belongs to the protocadherin family. Localized to the cell membrane and expressed specifically in fetal and adult brain, PCDH8 is thought to play a role in cell adhesion events in the central nervous system (CNS). PCDH8 is inactivated or silenced in breast cancer, suggesting a possible role in tumor suppression. Two isoforms of PCDH8 that differ in their cytoplasmic tails are expressed due to alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4856R-A555)
Fournisseur:
Bioss
Description:
HCV is classified into the genus Hepacivirus of the family Flaviviridae. Like all the members of the family, HCV is an enveloped, single-stranded, positive-sense RNA virus. Its genome (about 9600 nt) is flanked at both termini by conserved, highly structured non-translated regions (NTRs) and encodes a polyprotein precursor (about 3000 aa), which is proteolytically processed by host and viral proteases to produce the structural (core, E1, E2 and p7) and non-structural (NS2, NS3, NS4A, NS4B, NS5A and NS5B) proteins of the virus. Recently, an additional protein has been identified, whose function remains unknown. NS5A is a ~56 kDa pleiotropic protein with key roles in both viral RNA replication and modulation of the physiology of the host cell. It's exact role is not currently known (2008).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-4856R-A350)
Fournisseur:
Bioss
Description:
HCV is classified into the genus Hepacivirus of the family Flaviviridae. Like all the members of the family, HCV is an enveloped, single-stranded, positive-sense RNA virus. Its genome (about 9600 nt) is flanked at both termini by conserved, highly structured non-translated regions (NTRs) and encodes a polyprotein precursor (about 3000 aa), which is proteolytically processed by host and viral proteases to produce the structural (core, E1, E2 and p7) and non-structural (NS2, NS3, NS4A, NS4B, NS5A and NS5B) proteins of the virus. Recently, an additional protein has been identified, whose function remains unknown. NS5A is a ~56 kDa pleiotropic protein with key roles in both viral RNA replication and modulation of the physiology of the host cell. It's exact role is not currently known (2008).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11494R-A555)
Fournisseur:
Bioss
Description:
The UNC5H family of proteins act as transmembrane receptors for netrin-1 and play a crucial role in axon guidance and migration of neural cells. Additionally, when cleaved by a caspase to produce an intracellular fragment containing a death domain,UNC5H receptors induce apoptosis. This activity is blocked by the binding of netrin-1. In the absence of netrin-1, UNC5H receptors act as tumor suppressors by inhibiting anchorage-independent growth and invasion, but mutation of these receptors provides a potential mechanism for tumorigenicity. The expression of UNC5H receptors is down-regulated in multiple carcinomas, including colorectal, breast, ovary, uterus, stomach, lung, and kidney cancers. UNC5H4, also known as UNC5D (unc-5 homolog D), is single-pass type I membrane protein that is a member of the UNC5H netrin receptor family. Two isoforms of UNC5H4 exist due to alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11494R-A488)
Fournisseur:
Bioss
Description:
The UNC5H family of proteins act as transmembrane receptors for netrin-1 and play a crucial role in axon guidance and migration of neural cells. Additionally, when cleaved by a caspase to produce an intracellular fragment containing a death domain,UNC5H receptors induce apoptosis. This activity is blocked by the binding of netrin-1. In the absence of netrin-1, UNC5H receptors act as tumor suppressors by inhibiting anchorage-independent growth and invasion, but mutation of these receptors provides a potential mechanism for tumorigenicity. The expression of UNC5H receptors is down-regulated in multiple carcinomas, including colorectal, breast, ovary, uterus, stomach, lung, and kidney cancers. UNC5H4, also known as UNC5D (unc-5 homolog D), is single-pass type I membrane protein that is a member of the UNC5H netrin receptor family. Two isoforms of UNC5H4 exist due to alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8204R-HRP)
Fournisseur:
Bioss
Description:
NEEP21, also known as Brain neuron cytoplasmic protein 1, NSG1 (neuron-specific proteins family member 1), P21 or D4S234E, is a single pass type II membrane protein belonging to the NSG family. It is highly expressed during neuronal maturation but its expression is downregulated in adult tissues. NEEP21 predominantly localizes to Rab 4-positive early endosomes in the somatodendritic neuronal compartment and is essential for proper receptor sorting and recycling in neurons. It associates with GRIP1 and GluR-2 and mediates the surface expression of GluR-2. When this interaction is interrupted, GluR-2 accumulates in early endosomes and leads to changes in evoked synaptic current properties. In addition, NEEP21 forms a complex with the SNARE protein, Syntaxin 13 (also known as Syntaxin 12), and participates in the recycling of transferrin receptors (TFRs) and NTR2 (neurotensin receptor 2).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11765R-A350)
Fournisseur:
Bioss
Description:
Synaptotagmins are a large gene family of synaptic vesicle type III integral membrane proteins that function as regulators of both exocytosis and endocytosis and are involved in neurotransmitter secretion from small secretory vesicles. Synaptotagmin XIV, also known as SytXIV, is a 555 amino acid single-pass type III membrane protein belonging to the Synaptotagmin family. With the ability to form heterodimers, Synaptotagmin XIV mainly exists as a homodimer and contains two C2 domains, an N-terminal transmembrane domain and a putative fatty-acylation site. Synaptotagmin XIV is Ca2+-independent and may function in the trafficking and exocytosis of secretory vesicles to tissues outside the brain. Disruption of Synaptotagmin XIV may be affiliated with neurodevelopmental abnormalities. Synaptotagmin XIV exists as six alternatively spliced isoforms and is encoded by a gene on human chromosome 1q32.2.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11765R-A647)
Fournisseur:
Bioss
Description:
Synaptotagmins are a large gene family of synaptic vesicle type III integral membrane proteins that function as regulators of both exocytosis and endocytosis and are involved in neurotransmitter secretion from small secretory vesicles. Synaptotagmin XIV, also known as SytXIV, is a 555 amino acid single-pass type III membrane protein belonging to the Synaptotagmin family. With the ability to form heterodimers, Synaptotagmin XIV mainly exists as a homodimer and contains two C2 domains, an N-terminal transmembrane domain and a putative fatty-acylation site. Synaptotagmin XIV is Ca2+-independent and may function in the trafficking and exocytosis of secretory vesicles to tissues outside the brain. Disruption of Synaptotagmin XIV may be affiliated with neurodevelopmental abnormalities. Synaptotagmin XIV exists as six alternatively spliced isoforms and is encoded by a gene on human chromosome 1q32.2.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13270R-A488)
Fournisseur:
Bioss
Description:
The UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes are substrate-specific proteins that catalyze the transfer of GalNAc (N-acetylgalactosaminyl) to serine and threonine residues of various proteins, thereby initiating mucin-type O-linked glycosylation in the Golgi apparatus. GalNAc-T10 (Polypeptide N-acetylgalactosaminyltransferase 10), also known as UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10, is a 603 amino acid single-pass type II membrane protein that prefers Muc5Ac and EA2 peptide substrates. The N-terminal domain is involved in substrate binding and manganese coordination, while the C-terminal domain is involved in UDP-Gal binding and catalytic reaction. GalNAc-T10 is widely expressed, with highest levels found in small intestine. There are four isoforms of GalNAc-T10 that are produced as a result of alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11862R)
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-13176R-CY5)
Fournisseur:
Bioss
Description:
The immunophilins are a highly conserved family of cis-trans peptidyl-prolyl isomerases that bind to and mediate the effects of immunosuppressive drugs, such as cyclosporin, FK506 and rapamycin. Immunophilins have also been implicated in protein folding and trafficking within the endoplasmic reticulum (ER). FKBP11 (FK506-binding protein 11), also known as FKBP19 or peptidyl-prolyl cis-trans isomerase FKBP11, is a 201 amino acid single-pass membrane protein belonging to the FKBP-type PPIase family, a group of proteins known to catalyze the folding of proline-containing polypeptides. Containing one PPIase FKBP-type domain, FKBP11 is expressed in secretory tissues such as pancreas, pituitary, stomach, lymph node and salivary gland, and is encoded by a gene that maps to human chromosome 12q13.12. FK506 and rapamycin are known to inhibit FKBP11’s peptidyl-prolyl isomerase activity.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13209R)
Fournisseur:
Bioss
Description:
FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13209R-CY5)
Fournisseur:
Bioss
Description:
FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.
UOM:
1 * 100 µl
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