Thermo Fisher Scientific COL11A2 Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Product Specific Information

Positive Samples: A375, HepG2, K-562

Immunogen Sequence:
IVPGVQAAYE SCEQKELECE GGQRERPQNQ QPHRAQRSPQ QQPSRLHRPQ NQEPQSQPTE SLYYDYEPPY YDVMTTGTTP DYQDPTPGEE EEILESSLLP PLEEEQTDLQ VPPTADRFQA EEYGEGGTDP PEGPYDYTYG YGDDYREETE LGPALSAETA HSGAAAHGPR G

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, close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer, with the third alpha chain being a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that forms 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.