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COL6A1, COL6A2, and COL6A3 encode the a1, a2, and a3 chains of collagen VI, an extracellular matrix (ECM) microfibrillar collagen that forms beaded filaments providing structural support and cell matrix signaling in muscle, tendon, skin, and many other tissues. Collagen VI assembles intracellularly as heterotrimers (a1a2a3), which dimerize and tetramerize before secretion and extracellular microfibril formation; proper assembly depends on conserved von Willebrand factor A-like (vWA) domains and extensive disulfide bonding. These genes are highly expressed in skeletal muscle and connective tissues, and their products interact with ECM components (e.g., fibronectin, collagens) and cell surface receptors such as integrins to influence cell survival, autophagy, and mechanotransduction. Pathogenic variants in COL6A1-COL6A3 cause the collagen VI related myopathies, ranging from severe Ullrich congenital muscular dystrophy to milder Bethlem muscular dystrophy, with phenotypes driven by dominant negative or recessive effects that disrupt microfibril assembly and matrix stability. Beyond muscle disease, collagen VI has roles in fibrosis, tumor microenvironments, and peripheral nerve function, and its genes lie in regions with complex alternative splicing and large exons that modulate isoform diversity and tissue specificity.
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: alpha 1 (VI) chain (61 AA); alpha-2 collagen type VI; Bethlem/UCMD-associated gene; BVES; COL6A1L; COL6A2; collagen alpha 3 chain type VI; Collagen alpha-1(VI) chain; Collagen alpha-2(VI) chain; Collagen alpha-3(VI) chain; collagen alpha3(VI); Collagen VI alpha-1; Collagen VI alpha-2; Collagen VI alpha-3; collagen VI, alpha-1 polypeptide; collagen VI, alpha-2 polypeptide; collagen VI, alpha-3 polypeptide; collagen, type VI, alpha 1; collagen, type VI, alpha 2; collagen, type VI, alpha 3; epididymis secretory sperm binding protein; extracellular matrix protein; human mRNA for collagen VI alpha-2 C-terminal globular domain; procollagen, type VI, alpha 1; procollagen, type VI, alpha 2; procollagen, type VI, alpha 3; type VI collagen alpha 3 subunit; UCMD; UCMD1; unnamed protein product
基因别名: AI507288; AI747156; BTHLM1; BTHLM1A; BTHLM1B; BTHLM1C; Col6a-1; Col6a-2; Col6a-3; COL6A1; COL6A2; COL6A3; DYT27; OPLL; PP3610; RGD1565398; UCHMD1; UCHMD1A; UCMD1; UCMD1B; UCMD1C
UniProt ID: (Human) P12109, (Human) P12110, (Human) P12111, (Mouse) Q04857, (Mouse) Q02788
Entrez Gene ID: (Human) 1291, (Human) 1292, (Human) 1293, (Mouse) 12833, (Rat) 294337, (Rat) 361821, (Mouse) 12834, (Rat) 367313, (Mouse) 12835