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Immunogen sequence: FEAIQLDDE RIDSLSSFKE AVKNLEWIAG GTWTPSALKF AYDRLIKESR RQKTRVFAVV ITDGRHDPRD DDLNLRALCD RDVTVTAIGI GDMFHEKHES ENLYSIACDK PQQVRNMTLF SDLVAEKFID DMEDVLCPDP QIVCPDLPCQ TELSVAQCTQ RPVDIVFLLD GSERLGEQNF HKARRFVEQV ARRLTLARRD DDPLNARVAL LQFGGPGEQQ VAFPLSHNLT AIHEALETTQ YLNSFSHVGA GVVHAINAIV RSPRGGARRH AELSFVFLTD GVTGNDSLHE SAHSMRKQNV VPTVLALGSD VDMDVLTTLS LGDRAAVFHE KDYDSLAQPG FFDRFIRWIC (671-1019 aa encoded by BC065509)
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: Collagen alpha-2(VI) chain; collagen VI, alpha-2 polypeptide; collagen, type VI, alpha 2; human mRNA for collagen VI alpha-2 C-terminal globular domain
Gene Aliases: BTHLM1; COL6A2; PP3610; UCMD1
UniProt ID: (Human) P12110
Entrez Gene ID: (Pig) 100101552, (Human) 1292
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