COL6A2
Type VI collagen, alpha 2 | ||
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other names |
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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
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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
- ↑ COL6A2. In: GeneCards (English).
- ^ GeneID 1292
- ↑ 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 .
- ^ 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).