产品名称
COL6A2 Rabbit Polyclonal Antibody
别名
COL6A2; Collagen alpha-2(VI) chain
蛋白名称
Collagen alpha-2(VI) chain
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1292
Human Swissprot No.
P12110
Human Swissprot Link
http://www.uniprot.org/uniprotkb/P12110/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=12834
Mouse Swissprot No.
Q02788
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q02788
免疫原
The antiserum was produced against synthesized peptide derived from human Collagen VI alpha2. AA range:691-740
特异性
COL6A2 Polyclonal Antibody detects endogenous levels of COL6A2 protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. IF 1:200 - 1:1000. ELISA: 1:10000. Not yet tested in other applications.
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008],
组织表达
Fibroblast,Kidney,Liver,Ovary,Placenta,Uterus,
细胞定位
Secreted, extracellular space, extracellular matrix . Membrane ; Peripheral membrane protein . Recruited on membranes by CSPG4.
信号通路
Focal adhesion;ECM-receptor interaction;
功能
disease:Defects in COL6A2 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.,disease:Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.,function:Collagen VI acts as a cell-binding protein.,PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.,similarity:Belongs to the type VI collagen family.,similarity:Contains 3 VWFA domains.,subcellular location:Recruited on membranes by CSPG4.,subunit:Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI). Interacts with CSPG4.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
