LongevityMap Gene
Gene details
- HGNC symbol
- COL6A3
- Aliases
- DYT27; UCMD1; BTHLM1
- Common name
- collagen type VI alpha 3 chain
- Description
- This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
- Cytogenetic Location
- 2q37.3
- UCSC Genome Browser
- View 2q37.3 on the UCSC genome browser
- OMIM
- 120250
- Ensembl
- ENSG00000163359
- UniProt/Swiss-Prot
- B7ZW00_HUMAN
- Entrez Gene
- 1293
- UniGene
- 233240
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as COL6A3
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- European
- Study Design
- Meta-analysis of genome-wide association studies of survival and survival free of major disease or death. In total, there were 25,007 participants over 55 years of age and followed-up for over 10 years for mortality and over 8 years for event-free survival.
- Conclusions
- No SNP was significantly associated with time to event after correcting for multiple testing, but 8 independent SNPs predicted event-free survival at a suggestive threshold
- Indentifier
- rs10202497
- Reference