COL11A2 (gene)

Collagen alpha-2(XI) chain is a is_associated_with::protein that in humans is encoded by the COL11A2 is_associated_with::gene.

Function
This gene encodes one of the two alpha chains of type XI is_associated_with::collagen, a minor fibrillar collagen. It is located on is_associated_with::chromosome 6 very close to but separate from the gene for is_associated_with::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 is_associated_with::Stickler syndrome, is_associated_with::otospondylomegaepiphyseal dysplasia (OSMED syndrome), is_associated_with::Weissenbacher-Zweymuller syndrome, and autosomal dominant nonsyndromic sensorineural 13 deafness. Three transcript variants encoding different isoforms have been identified for this gene.