Product Information
Molecular Weight108579Da
Protein NameCollagen alpha-2(VI) chain
Human Gene Id1292
Human Swiss Prot NoP12110
Mouse Gene Id12834
Mouse Swiss Prot NoQ02788
SpecificityCOL6A2 Polyclonal Antibody detects endogenous levels of COL6A2 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCOL6A2; Collagen alpha-2(VI) chain
Observed Band(KD)109
Functiondisease: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
Subcellular Locationextracellular region,proteinaceous extracellular matrix,collagen trimer,extracellular space,endoplasmic reticulum lumen,extracellular matrix,sarcolemma,protein complex,extracellular exosome,extracellular vesicle,
ExpressionFibroblast,Kidney,Liver,Ovary,Placenta,Uterus,
Backgroundcollagen type VI alpha 2 chain(COL6A2) Homo sapiens 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],