| Protein Name | collagen type XI alpha 2 chain |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1302 |
| Gene Symbol | COL11A2 |
| UniProt | P13942 (COBA2_HUMAN), H0YIS1 (H0YIS1_HUMAN), Q4VXY6 (Q4VXY6_HUMAN), A0A0C4DFS1 (A0A0C4DFS1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
794
Total Number of Articles : 1243 |
Description |
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] |
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