XB-FEAT-12564498: Difference between revisions
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''Xenopus'' gene name changed from ''collagen, type XI, alpha 2'' to ''collagen type XI alpha 2 chain'' (removing commas). | ''Xenopus'' gene name changed from ''collagen, type XI, alpha 2'' to ''collagen type XI alpha 2 chain'' (removing commas). | ||
=summary for human COL11A2= | |||
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] | |||
Revision as of 13:09, 1 May 2023
col11a2
This is the community wiki page for the gene col11a2' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
nomenclature changes
01May2023
Xenopus gene name changed from collagen, type XI, alpha 2 to collagen type XI alpha 2 chain (removing commas).
summary for human COL11A2
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]