QuickView for COL6A1 (gene)

Gene Symbol:

COL6A1 Homo sapiens

Full name:

collagen type VI alpha 1 chain

Synonyms:

BTHLM1, OPLL, UCHMD1, collagen alpha-1(VI) chain, alpha 1 (VI) chain (61 AA), collagen VI, alpha-1 polypeptide, collagen, type VI, alpha 1

Genomic Location:

Chr 21: 46226091-46249391

Description:

The 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 ...

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The 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

21q22.3

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