You Searched For: Bioss

Catalog Number: (10313-274)

Supplier: Bioss

Description: Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf34 gene product has been provisionally designated C7orf34 pending further characterization.

Catalog Number: (10313-230)

Supplier: Bioss

Description: Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf29 gene product has been provisionally designated C7orf29 pending further characterization.

Catalog Number: (10308-778)

Supplier: Bioss

Description: Involved in the costimulatory signal essential for T-lymphocyte activation. T-cell proliferation and cytokine production is induced by the binding of CD28, binding to CTLA-4 has opposite effects and inhibits T-cell activation.

Catalog Number: (10491-348)

Supplier: Bioss

Description: The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unsual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. 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. The CXorf21 gene product has been provisionally designated CXorf21 pending further characterization.

Catalog Number: (10491-376)

Supplier: Bioss

Description: The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unsual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. 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. The CXX1 gene product has been provisionally designated CXX1 pending further characterization.

Catalog Number: (10491-396)

Supplier: Bioss

Description: GTP-binding protein 9 is a 396 amino acid protein that belongs to the Obg-related GTPase family under the translation factors (TRAFAC) class. Originally thought to only have GTPase activity, Obg-related GTPase family members have been shown to also have ATPase activity. In Homo sapians, GTPBP9 exhibits a preference for binding ATP over GTP, with GTP binding occuring only at high nucleotide concentration. One cause for ATP affinity and GTP discrimination is thought to be a substitution of glutamine for a hydrophobic amino acid in Obg-related family members; this is the same substitution that inactivates Ras-like GTPases. GTPBP9 contains a C-terminal TGS domain that binds to ligands and an N-terminal G domain which binds nucleotides. GTPBP9 is expressed as three isoforms produced by alternative splicing.

Catalog Number: (10456-288)

Supplier: Bioss

Description: The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].

Catalog Number: (10456-286)

Supplier: Bioss

Description: The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].

Catalog Number: (10247-220)

Supplier: Bioss

Description: Small leucine-rich proteoglycans (SLRPs) such as Decorin, Biglycan, Fibromod-ulin, Keratocan, Lumican and Osteoglycin mediate extracellular matrix organization and are binding partners of TGF Beta. The Decorin core protein binds to growth factors, intercellular matrix molecules such as Fibronectin and Throm-bospondin, and to the Decorin endocytosis receptor. Fibromodulin is a collagen-binding keratan sulphate proteoglycan that influences adhesion processes of connective tissue and plays a role in fibrillogenesis by regulating collagen fibril spacing and thickness. Keratocan (KTN) develops corneal transparency and maintains the stromal matrix structure. Keratocan is a secreted protein in the extracellular matrix that binds to keratan sulfate chains. Keratocan is mainly detected in the cornea, but can also be expressed in trachea, intestine, ovary, lung and skeletal muscle. Defects in the gene encoding for Keratocan can cause cornea plana 2 (CNA2), an autosomal recessive disorder where the forward convex curvature of the cornea is flattened.

Catalog Number: (10427-824)

Supplier: Bioss

Description: AARE (Acylamino-acid-releasing enzyme) is also known as Acyl-peptide hydrolase. It catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus corresponding to the protein are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma.

Catalog Number: (10427-906)

Supplier: Bioss

Description: Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8.

Catalog Number: (10245-314)

Supplier: Bioss

Description: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline >clonidine >epinephrine >norepinephrine >phenylephrine >dopamine >p-synephrine >p-tyramine >serotonin = p-octopamine. For antagonists, the rank order is yohimbine >phentolamine = mianserine >chlorpromazine = spiperone = prazosin >propanolol >alprenolol = pindolol.

Catalog Number: (10245-330)

Supplier: Bioss

Description: Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.

Catalog Number: (10245-338)

Supplier: Bioss

Description: Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.

Catalog Number: (10310-038)

Supplier: Bioss

Description: Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf144 gene product has been provisionally designated C20orf144 pending further characterization.

Catalog Number: (10310-072)

Supplier: Bioss

Description: Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf152 gene product has been provisionally designated C20orf152 pending further characterization.