Collagen, Type VI, Alpha-1

Alternative Names

COL6A1
Collagen, Intimal
Short-Chain Collagen

Length

23,279 bases

No. of Exons

No. of isoforms

Protein Name

Collagen alpha-1(VI) chain

Molecular Mass

108529 Da

Amino Acid Count

1028

Genomic Location

chr21:45,981,770-46,005,048

Gene Map Locus

21q22.3

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 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. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001848.3:c.1693C>T	Saudi Arabia	NC_000021.9:g.45999171C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Ullrich Congenital Muscular Dystrophy 1	NG_008674.1:g.22423C>T; NM_001848.3:c.1693C>T; NP_001839.2:p.Arg565Ter	1304888945	596692
NM_001848.3:c.329G>A	Saudi Arabia	NC_000021.9:g.45984370G>A	Likely Benign, Uncertain Significance	Pathogenic	Ullrich Congenital Muscular Dystrophy 1	NG_008674.1:g.7622G>A; NM_001848.3:c.329G>A; NP_001839.2:p.Arg110His	773139115	418910

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External Links

https://medlineplus.gov/genetics/gene/col6a1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=col6a1

Contributors

Pratibha Nair: 14.12.2023

Edit History

Pratibha Nair: 14.12.2023
Pratibha Nair: 03.11.2014

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