Collagen, type VI, alpha 1

Collagen, type VI, alpha 1
Collagen, type VI, alpha 1
Identifiers
Symbols COL6A1; OPLL
External IDs OMIM120220 MGI88459 HomoloGene1391 GeneCards: COL6A1 Gene
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 1291 12833
Ensembl ENSG00000142156 ENSMUSG00000001119
UniProt P12109 Q8C6Y0
RefSeq (mRNA) NM_001848 NM_009933.4
RefSeq (protein) NP_001839 NP_034063.1
Location (UCSC) Chr 21:
47.4 – 47.42 Mb
Chr 10:
76.17 – 76.19 Mb
PubMed search [1] [2]

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

Contents

Function

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

Further reading

External Links


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