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Gene information for COL6A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1291
Official gene symbolCOL6A1
Full namecollagen, type VI, alpha 1
Aliases,OPLL,
Gene summaryThe 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]
LocationChromosome: 21   Locus: 21q22.3
Gene position47401663 - 47424963  Map Viewer
Gene orientationplus
Gene size23301 bp
Gene sequence
OMIM ID120220