COL6A1

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Type VI collagen, alpha 1
other names
  • Alpha-1 type VI collagen
  • Collagen Alpha-1 (VI) chain
  • Type VI collagen alpha-1 chain
Properties of human protein
Mass / length primary structure 108,529 daltons / 1,028 amino acids
Identifier
Gene names COL6A1; OPLL, BTHLM1, UCHMD1
External IDs
Occurrence
Parent taxon Meat finisher , Clupeocephala
Orthologue
human House mouse
Entrez 1291 12833
Ensemble ENSG00000142156 ENSMUSG00000001119
UniProt P12109 Q04857
Refseq (mRNA) NM_001848 NM_009933
Refseq (protein) NP_001839.2 NP_034063.1
Gene locus Chr 21: 45.98 - 46.01 Mb Chr 10: 76.71 - 76.73 Mb
PubMed search 1291 12833

Type VI collagen, alpha 1 , also known as alpha-1 type VI collagen , is a string of pearls-like collagen encoded by the COL6A1 gene in the human organism . The protein is important in maintaining the integrity of the various tissues.

Mutations in this gene are associated with autosomal dominant bethlem myopathy .

Clinical significance

COL6A1 is a potential biomarker of cycling performance as an endurance sport . The change in the composition of tissues containing type VI collagen, such as muscle and tendon tissue, is recorded.

COL6A1 - polymorphisms are connected to the ossification of the ligamentum flavum (OLF) and the posterior longitudinal ligament (OPLL) is associated. COL6A1 also is a potential susceptibility gene for OLF and OPLL in Han Chinese is. Genetic variations of the gene COL6A1 could in patients with ankylosing spondylitis with the occurrence of uveitis may be associated.

Individual evidence

  1. ↑ COL6A1. In: GeneCards (English).
  2. ^ GeneID 1290
  3. ↑ K. O'Connell, M. Posthumus, M. Collins: COL6A1 gene and Ironman triathlon performance. In: International journal of sports medicine. Volume 32, Number 11, November 2011, pp. 896-901, doi : 10.1055 / s-0031-1277181 , PMID 22012643 .
  4. ^ Q. Kong, X. Ma, F. Li, Z. Guo, Q. Qi, W. Li, H. Yuan, Z. Wang, Z. Chen: COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament. In: Spine. Volume 32, Number 25, December 2007, pp. 2834-2838, doi : 10.1097 / BRS.0b013e31815b761c , PMID 18246005 .
  5. ↑ TH Kim, TJ Kim, HS Lee, WS Uhm, ES Shin, YI Na, JB Jun: Single nucleotide polymorphism of COL6A1 in patients with ankylosing spondylitis. In: The Journal of rheumatology. Volume 35, Number 9, September 2008, pp. 1849-1852, PMID 18634150 .