COL11A2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL11A2 wild-type allele is located in the vicinity of 6p21.32 and is approximately 31 kb in length. This allele, which encodes collagen alpha-2(XI) chain protein, is involved in maintaining the structure and strength of cartilage, tendons and many other tissues. Mutations in the gene are associated with autosomal recessive and autosomal dominant otospondylomegaepiphyseal dysplasia (formerly Weissenbacher-Zweymuller syndrome), fibrochondrogenesis 2, autosomal dominant non-syndromic sensorineural deafness 13, and autosomal recessive non-syndromic sensorineural deafness 53.

**Synonyms:** - Collagen Type XI Alpha 2 Chain wt Allele - Collagen, Type XI, Alpha 2 Gene - Collagen, Type XI, Alpha-2 Gene - DFNA13 - DFNB53 - FBCG2 - HKE5 - OSMEDA - OSMEDB - PARP - Pro-A2 Chain of Collagen Type XI Gene - STL3