Protein Name collagen type XI alpha 2 chain
Organism Homo sapiens
Gene ID 1302
Gene Symbol


Relationships Total Number of functionally related compound(s) : 794
Total Number of Articles : 1243

collagen type XI alpha 2 chain

Gene Summary

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. [provided by RefSeq, Jul 2009]

  • collagen alpha-2(XI) chain
  • collagen, type XI, alpha 2
  • pro-a2 chain of collagen type XI
Click to show/hide the synonyms