Official Full Name
collagen, type XI, alpha 2
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, 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.
COL11A2; collagen, type XI, alpha 2; DFNA13, DFNB53; collagen alpha-2(XI) chain; HKE5; COBA2_HUMAN; Collagen alpha 2(XI); Collagen type XI alpha 2; DAQB-79P13.8; DFNA13; HGNC:2187; PARP; STL3; pro-a2 chain of collagen type XI; DFNB53; col11a1; collagen XI alpha 1; collagen type XI alpha-2