Preferred Label : COL11A2 wt Allele;
NCIt synonyms : Collagen, Type XI, Alpha-2 Gene; PARP; FBCG2; HKE5; DFNB53; DFNA13; OSMEDA; OSMEDB; Collagen, Type XI, Alpha 2 Gene; Collagen Type XI Alpha 2 Chain wt Allele; STL3; Pro-A2 Chain of Collagen Type XI Gene;
NCIt 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.;
GenBank Accession Number : U32169;
Origin ID : C215718;
OMIM relation
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
