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Open Access Articles- Top Results for Collagen, type XI, alpha 1

Collagen, type XI, alpha 1

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Identifiers
SymbolsCOL11A1 ; CO11A1; COLL6; STL2
External IDsOMIM120280 MGI88446 HomoloGene56389 GeneCards: COL11A1 Gene
RNA expression pattern
File:PBB GE COL11A1 37892 at tn.png
File:PBB GE COL11A1 204320 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez130112814
EnsemblENSG00000060718ENSMUSG00000027966
UniProtP12107Q61245
RefSeq (mRNA)NM_001190709NM_007729
RefSeq (protein)NP_001177638NP_031755
Location (UCSC)Chr 1:
103.34 – 103.57 Mb
Chr 3:
114.03 – 114.22 Mb
PubMed search[1][2]

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. ^ a b c "Entrez Gene: COL11A1 collagen, type XI, alpha 1". 

External links

Further reading

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