Collagen alpha-1(XI) chain is a protein that in people is encoded by the COL11A1 gene.[5][6]
Contents
Perform[edit]
Kind XI collagen is a heterotrimer however the third alpha chain is a post-translationally modified alpha 1 kind II chain. The COL11A1 gene encodes one of many two alpha chains of kind XI collagen, a minor fibrillar collagen. Three transcript variants encoding completely different isoforms have been recognized for this gene.[6]
Medical significance[edit]
Options of Stickler syndrome kind II embrace: sensorineural listening to loss, facial options (flat facial profile, anteverted nares, micrognathia), cleft palate, visible disturbances (kind 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy. Stickler syndrome, kind II is an autosomal dominant situation brought on by a mutation within the COL11A1 gene.