Collagen, type VI, alpha 1

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collagen, type VI, alpha 1
Identifiers
Aliases COL6A1, OPLL, BTHLM1, UCHMD1, collagen type VI alpha 1
External IDs MGI: 88459 HomoloGene: 1391 GeneCards: 1291
RNA expression pattern
PBB GE COL6A1 212091 s at tn.png

PBB GE COL6A1 212937 s at tn.png

PBB GE COL6A1 212938 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001848

NM_009933

RefSeq (protein)

NP_001839.2

NP_034063.1

Location (UCSC) Chr 21: 45.98 – 46.01 Mb Chr 10: 76.71 – 76.73 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.[1]

Function[edit]

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.[1]

References[edit]

Further reading[edit]

External links[edit]