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Sequence of this protein is as follows: MTYVRETCGC CDCEKRCGAL DVVFVIDSSE SIGYTNFTLE KNFVINVVNR LGAIAKDPKS ETGTRVGVVQ YSHEGTFEAI QLDDEHIDSL SSFKEAVKNL EWIAGGTWTP SALKFAYDRL IKESRRQKTR VFAVVITDGR HDPRDDDLNL RALCDRDVTV TAIGIGDMFH EKHESENLYS IACDKPQQVR NMTLFSDLVA EKFIDDMEDV LCPDPQIVCP DLPCQTELSV AQCTQRPVDI VFLLDGSERL GEQNFHKARR FVEQVARRLT LARRDDDPLN ARVALLQFGG PGEQQVAFPL SHNLTAIHEA LETTQYLNSF SHVGAGVVHA INAIVRSPRG GARRHAELSF VFLTDGVTGN DSLHESAHSM RKQNVVPTVL ALGSDVDMDV LTTLSLGDRA AVFHEKDYDS LAQPGFFDRF IRWIC
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: BTHLM1; COL6A2; PP3610; UCMD1
UniProt ID: (Human) P12110
Entrez Gene ID: (Human) 1292