Tissue expression
Cell line expression
Protein structure
COL11A2
Collagen type XI alpha 2 chainDFNA13, DFNB53, HKE5
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]
Top validated antibodies |
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Invitrogen Antibodies | ![]() |
1 references | Monoclonal |
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Biorbyt | ![]() |
Polyclonal |
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Novus Biologicals | ![]() |
1 references | Polyclonal |
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St John's Laboratory | ![]() |
Polyclonal |
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Cusabio Biotech Co., Ltd | ![]() |
Polyclonal |
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