Gene Symbol | COL11A2 |
Entrez Gene ID | 1302 |
Full Name | collagen type XI alpha 2 chain |
Synonyms | DFNA13,DFNB53,FBCG2,HKE5,OSMEDA,OSMEDB,PARP,STL3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3); Deafness, autosomal dominant 13, 601868 (3); Deafness, autosomal recessive 53, 609706 (3); Fibrochondrogenesis 2, 614524 (3); Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3) |