Collagen, type VI, alpha 1

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AliasesCOL6A1, OPLL, BTHLM1, UCHMD1, collagen type VI alpha 1, collagen type VI alpha 1 chain
External IDsMGI: 88459 HomoloGene: 1391 GeneCards: COL6A1
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for COL6A1
Genomic location for COL6A1
Band21q22.3Start45,981,737 bp[1]
End46,005,050 bp[1]
RNA expression pattern
PBB GE COL6A1 212091 s at fs.png

PBB GE COL6A1 212937 s at fs.png

PBB GE COL6A1 212938 at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 21: 45.98 – 46.01 MbChr 10: 76.71 – 76.73 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.[5]


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.[5]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000142156 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001119 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: COL6A1 collagen, type VI, alpha 1".

Further reading[edit]

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