Product Information
Molecular Weight108529Da
Protein NameCollagen alpha-1(VI) chain
Human Gene Id1291
Human Swiss Prot NoP12109
Mouse Gene Id12833
Mouse Swiss Prot NoQ04857
SpecificityCOL6A1 Polyclonal Antibody detects endogenous levels of COL6A1 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 NameCOL6A1; Collagen alpha-1(VI) chain
Functiondisease:Defects in COL6A1 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.,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.,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).,
Subcellular Locationextracellular region,collagen trimer,collagen type VI trimer,lysosomal membrane,endoplasmic reticulum lumen,membrane,extracellular matrix,sarcolemma,protein complex,extracellular exosome,
ExpressionBlood,Brain,Fetal brain cortex,Fibroblast,Kidney,Liver,Ovary,Placenta,
Backgroundcollagen type VI alpha 1 chain(COL6A1) Homo sapiens The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008],