Thermo Fisher Scientific COL11A2 Polyclonal Antibody

Applications

Immunohistochemistry (Paraffin) (IHC (P))

• Tested Dilution: 1:50–1:100

Product Specifications

Target Information

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 serves as 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)
• 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.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.