COL11A2 antibody [GT473],Genetex,GTX629740

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). Three transcript variants encoding different isoforms have been identified for this gene. A pseudogene is located nearby on chromosome 6. [provided by RefSeq]

collagen type XI alpha 2 chain , DFNA13 , DFNB53 , FBCG2 , HKE5 , OSMEDA , OSMEDB , PARP , STL3