靶标：
COL11A2
产品别名：
DFNA13； DFNB53； FBCG2； HKE5； OSMEDA； OSMEDB； PARP； STL3； COL11A2； collagen type XI alpha 2 chain； collagen type XI alpha 2 chain； collagen alpha-2(XI) chain； collagen, type XI, alpha 2； pro-a2 chain of collagen type XI； Ⅺ型胶原α2(COL11a2)； 胶原蛋白11A2；
背景信息：
collagen type XI alpha 2 chain(COL11A2) Homo sapiens 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],
