Immunogen sequence: ELSFVFLTDGV TGNDSLHESA HSMRKQNVVP TVLALGSDVD MDVLTTLSLG DRAAVFHEKD YDSLAQPGFF DRFIR
Highest antigen sequence identity to the following orthologs - mouse 86%, rat 86%.
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.
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Protein Aliases: alpha-2 polypeptide; Collagen alpha-2(VI) chain; collagen VI; collagen VI, alpha-2 polypeptide; collagen, type VI, alpha 2; human mRNA for collagen VI alpha-2 C-terminal globular domain; PP3610
Gene Aliases: BTHLM1; COL6A2; PP3610; UCMD1
UniProt ID: (Human) P12110
Entrez Gene ID: (Human) 1292