Species Human Entrez 1302 | Human Mouse Ensembl n/a | |
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Aliases COL11A2, DFNA13, DFNB53, FBCG2, HKE5, PARP, STL3, collagen type XI alpha 2 External IDs MGI: 88447 HomoloGene: 22547 GeneCards: COL11A2 | ||
Collagen alpha-2(XI) chain is a protein that in humans is encoded by the COL11A2 gene.
Function
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, and autosomal dominant nonsyndromic sensorineural 13 deafness. Three transcript variants encoding different isoforms have been identified for this gene.