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Description
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 nonsyndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive nonsyndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq
Specifications
Specifications
| Antigen | COL11A2 |
| Applications | ELISA, Western Blot |
| Classification | Polyclonal |
| Conjugate | Unconjugated |
| Description | Mouse polyclonal antibody raised against a partial recombinant COL11A2. |
| Formulation | 50% glycerol |
| Gene | COL11A2 |
| Gene Accession No. | NM_080680 |
| Gene Alias | DFNA13/DFNB53/HKE5/PARP/STL3 |
| Gene Symbols | COL11A2 |
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