Thermo Fisher Scientific COL11A2 Monoclonal Antibody (GT212)

Applications

• Western Blot (WB): 1:500–1:3,000

Product Specifications

Product Specific Information

• Keep as concentrated solution.
• Predicted reactivity: Mouse (89%), Rat (89%), Bovine (93%).
• Positive Control: human COL11A2-transfected 293T cells (partial fragment).
• Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.

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 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)
• 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.