Collagen, type XI, alpha 1

Collagen alpha-1(XI) chain is a is_associated_with::protein that in humans is encoded by the COL11A1 is_associated_with::gene.

Function
The COL11A1 gene encodes one of the two alpha chains of type XI is_associated_with::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.

Clinical significance
Mutations in this gene are associated with type II is_associated_with::Stickler syndrome and with is_associated_with::Marshall syndrome.

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the is_associated_with::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.