COL6A2

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Type VI collagen, alpha 2
other names
  • Alpha 2 Type VI Collagen
  • Collagen Alpha-2 (VI) chain
  • Type VI collagen alpha-2 chain
Properties of human protein
Mass / length primary structure 108,579 daltons / 1,019 amino acids
Isoforms 3
Identifier
Gene names COL6A2; PP3610, BTHLM1, UCHMD1
External IDs
Occurrence
Parent taxon Meat finisher , Clupeocephala
Orthologue
human House mouse
Entrez 1292 12834
Ensemble ENSG00000142173 ENSMUSG00000020241
UniProt P12110 Q02788
Refseq (mRNA) NM_001849 NM_146007
Refseq (protein) NP_001840.3 NP_666119.1
Gene locus Chr 21: 46.1 - 46.13 Mb Chr 10: 76.6 - 76.62 Mb
PubMed search 1292 12834

Type VI collagen, alpha 2 , also known as alpha-2 type VI collagen , is a string of pearls-like collagen encoded by the COL6A2 gene in the human body . The domains of the protein bind proteins in the extracellular matrix in order to better organize matrix components.

Mutations in this gene are associated with Bethlem myopathy and Ullrich type congenital muscular dystrophy .

Clinical significance

A p.Asp215Asn mutation in COL6A2 is believed to be responsible for progressive myoclonus epilepsies . A co-expression of DSCAM ( english down syndrome cell adhesion molecule ) and COL6A2 in rat heart lead to increased mortality and serious physiological and morphological defects, including Atriumseptumdefekte and cardiac hypertrophy .

Individual evidence

  1. ↑ COL6A2. In: GeneCards (English).
  2. ^ GeneID 1292
  3. ↑ S. Karkheiran, CE Krebs, V. Makarov, Y. Nilipour, B. Hubert, H. Darvish, S. Frucht, GA Shahidi, JD Buxbaum, C. Paisán-Ruiz: Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. In: Human Genetics. Volume 132, Number 3, March 2013, pp. 275-283, doi : 10.1007 / s00439-012-1248-1 , PMID 23138527 .
  4. ^ TR Grossman, A. Gamliel, RJ Wessells, O. Taghli-Lamallem, K. Jepsen, K. Ocorr, JR Korenberg, KL Peterson, MG Rosenfeld, R. Bodmer, E. Bier: Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects. In: PLoS genetics. Volume 7, number 11, November 2011, p. E1002344, doi : 10.1371 / journal.pgen.1002344 , PMID 22072978 , PMC 3207880 (free full text).