Collagen, type XI, alpha 1

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External IDsGeneCards: [1]
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SpeciesHumanMouse
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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

  1. Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue". J Biol Chem. 263 (32): 17159–66. PMID 3182841.
  2. 2.0 2.1 2.2 "Entrez Gene: COL11A1 collagen, type XI, alpha 1".

External links

Further reading



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