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Bioss
Numéro de catalogue:
(BOSSBS-13476R-HRP)
Fournisseur:
Bioss
Description:
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13476R-CY3)
Fournisseur:
Bioss
Description:
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-2436R-A647)
Fournisseur:
Bioss
Description:
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq]
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0675R-CY5)
Fournisseur:
Bioss
Description:
Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9326R-A647)
Fournisseur:
Bioss
Description:
GDAP2
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13476R-CY5)
Fournisseur:
Bioss
Description:
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1438R-HRP)
Fournisseur:
Bioss
Description:
HCK is a tyrosine kinase that is predominantly expressed in hemopoietic cell types. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6811R-A350)
Fournisseur:
Bioss
Description:
Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15187R-A488)
Fournisseur:
Bioss
Description:
C4orf17 (chromosome 4 open reading frame 17) is a 359 amino acid protein encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded by a gene that is located on chromosome 4, and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15187R-CY3)
Fournisseur:
Bioss
Description:
C4orf17 (chromosome 4 open reading frame 17) is a 359 amino acid protein encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded by a gene that is located on chromosome 4, and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9057R-CY5.5)
Fournisseur:
Bioss
Description:
Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12287R-FITC)
Fournisseur:
Bioss
Description:
Microtubules mediate the spatial organization of diverse membrane-trafficking systems. The HOOK proteins, HOOK1, HOOK2 and HOOK3, comprise a family of cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules; and more divergent C-terminal domains, which mediate binding to organelles. HOOK1, a cytoskeletal linker protein, may play a role in endocytic membrane trafficking. It exists as a homodimer, most likely mediated through its central coiled-coil domain. HOOK1 interacts with VPS18 and is required for spermatid differentiation, in which it is most likely involved in the positioning of the manchette microtubules and the flagellum. HOOK1 localizes primarily to the cytoplasm and does not associate with the Golgi complex, unlike HOOK3, which participates in the organization of the cis-Golgi compartment.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5214R-A350)
Fournisseur:
Bioss
Description:
This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant, and recessive forms of nephrogenic diabetes insipidus.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12237R-A350)
Fournisseur:
Bioss
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF532 is a 1301 amino acid nuclear protein that contains twelve C2H2-type zinc fingers. The gene encoding ZNF532 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases, representing about 2.5% of total DNA in cells. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12287R-CY7)
Fournisseur:
Bioss
Description:
Microtubules mediate the spatial organization of diverse membrane-trafficking systems. The HOOK proteins, HOOK1, HOOK2 and HOOK3, comprise a family of cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules; and more divergent C-terminal domains, which mediate binding to organelles. HOOK1, a cytoskeletal linker protein, may play a role in endocytic membrane trafficking. It exists as a homodimer, most likely mediated through its central coiled-coil domain. HOOK1 interacts with VPS18 and is required for spermatid differentiation, in which it is most likely involved in the positioning of the manchette microtubules and the flagellum. HOOK1 localizes primarily to the cytoplasm and does not associate with the Golgi complex, unlike HOOK3, which participates in the organization of the cis-Golgi compartment.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6398R-FITC)
Fournisseur:
Bioss
Description:
SERTA domain containing 2 (SERTAD2) acts at E2F-responsive promoters to integrate signals provided by PHD- and/or bromodomain-containing transcription factors.
UOM:
1 * 100 µl
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