Collagen, type XI, alpha 1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.[1][2]
Function
The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Three transcript variants encoding different isoforms have been identified for this gene.[2]
Clinical significance
Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.[2]
Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.
References
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Further reading
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