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Gene : COL6A3 Homo sapiens

Name  ? collagen type VI alpha 3 chain Cytological Location  2q37.3
Brief Description  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]
  • synonyms:
  • OTTHUMG00000150020,
  • uc002vwl.3,
  • HGNC:2213,
  • X52022,
  • BTHLM1,
  • COL6A3,
  • UCMD1,
  • NM_004369,
  • DYT27,
  • collagen, type VI, alpha 3
  • identifiers:
  • 1293,
  • ENSG00000163359,
  • COL6A3

Genome feature

Region: gene ? Length: 110811  
Location: 2:237324012-237434822 reverse strand Cyto location: 2q37.3


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Disease

3 Diseases

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390 SN Ps

5 Cross References

20 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results