COL6A1 collagen type VI alpha 1 chain

Gene ID: 1291, updated on 27-Nov-2024
Gene type: protein coding
Also known as: OPLL; BTHLM1; UCHMD1; BTHLM1A; UCHMD1A

Summary

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Bethlem myopathy 1A MedGen: CN029274OMIM: 158810GeneReviews: Collagen VI-Related Dystrophies	See labs
Collagen 6-related myopathy MedGen: CN117976GeneReviews: Collagen VI-Related Dystrophies	See labs
Ullrich congenital muscular dystrophy 1A MedGen: C0410179OMIM: 254090GeneReviews: Collagen VI-Related Dystrophies	See labs

Genomic context

Location:: 21q22.3

Sequence:: Chromosome: 21; NC_000021.9 (45981770..46005048)

Total number of exons:: 35

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for COL6A1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
COL6A1 homepage - Leiden Muscular Dystrophy pages
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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