130112814ENSG00000060718ENSMUSG00000027966P12107Q61245NM_001190709NM_001854NM_080629NM_080630NM_007729NP_001177638NP_001845NP_542196NP_542197NP_031755Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.

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.

[6] 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.