Recombinant Human Collagen alpha-2 (XI) chain (COL11A2), Truncated

Uniprot Id

P13942

Target Species

Human

Target Name

COL11A2

Target Full Name

Collagen alpha-2(XI) chain

Target Function

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Target Involvement

Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA); Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB); Deafness, autosomal dominant, 13 (DFNA13); Deafness, autosomal recessive, 53 (DFNB53); Fibrochondrogenesis 2 (FBCG2)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Fibrillar collagen family

Target Synonyms

COBA2_HUMAN; COL11A2; Collagen alpha 2(XI); Collagen alpha-2(XI) chain; Collagen type XI alpha 2; Collagen XI a2; DAQB-79P13.8; DFNA13; DFNB53; FBCG2; HGNC:2187; HKE5; PARP; Pro a2 chain of collagen type XI; STL3

Target Background

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.