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COL11A2 / Collagen XI is 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, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6.
Gene Name: | collagen, type XI, alpha 2 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL11A2, Collagen XI alpha 2, Collagen alpha-2(XI) chain, DFNA13, FBCG2, PARP, Collagen, type XI, alpha 2, DFNB53, HKE5, STL3 |
Target Sequences: | NM_080680 NP_542411.2 P13942 |
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