" /> COL11A2 wt Allele - CISMeF





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;

Details


You can consult :


Nous contacter.
15/08/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.