COL11A2
Collagen type XI, alpha 2 | ||
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other names |
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Properties of human protein | ||
Mass / length primary structure | 1,736 amino acids , 171,791 Da | |
Identifier | ||
Gene names | COL11A2; DFNA13, DFNB53, FBCG2, HKE5, PARP, STL3 | |
External IDs | ||
Occurrence | ||
Parent taxon | Euteleostomi | |
Orthologue | ||
human | House mouse | |
Entrez | 1302 | 12815 |
Ensemble | ENSMUSG00000024330 | |
UniProt | P13942 | Q64739 |
Refseq (mRNA) | NM_001163771 | NM_009926 |
Refseq (protein) | NP_001157243.1 | NP_034056.1 |
Gene locus | Chr 6: 33.16 - 33.19 Mb | Chr 17: 34.04 - 34.07 Mb |
PubMed search | 1302 |
12815
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Collagen type XI, alpha 2 is a collagen that the gene COL11A2 is encoded. Together with the related collagen type XI, alpha 1 and the post-translationally modified collagen type II, alpha 1, it forms heterotrimers , which in turn form collagen fibrils of type XI.
properties
Collagen type XI, alpha 2 participates in the metabolic pathways of the integrins and in the modification of enzymes. It also plays a role in fibrillogenesis by controlling the lateral growth of collagen type II chains. The proteolytic cleavage of the COL11A2 chain leads to the production of the protein PARP (English proline / arginine-rich protein ), which is a fragment of the N terminus .
Mutations in the COL11A2 gene can lead to the Weissenbacher-Zweymüller phenotype and otospondylo-megaepiphyseal dysplasia .
Web links
Individual evidence
- ↑ NI Zhidkova, RG Brewton, R. Mayne: Molecular cloning of PARP (proline / arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2 (XI) chain . In: FEBS Lett . 326, No. 1-3, July 12, 1993, pp. 25-28. PMID 8325374 .
- ↑ Tamar Harel, Ronen Rabinowitz, Netta Hendler, Aharon Galil, Hagit Flusser, Juan Chemke, Libe Gradstein, Tova Lifshitz, Rivka Ofir, Khalil Elbedour, Ohad S. Birk: COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED) . In: Am J Med Genet A . 132A, No. 1, Jan. 1, 2005, pp. 33-35. doi : 10.1002 / ajmg.a.30371 . PMID 15558753 .
- ↑