Collagen, type XI, alpha 1

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Collagen, type XI, alpha 1
Identifiers
Symbols COL11A1 ; CO11A1; COLL6; STL2
External IDs OMIM120280 MGI88446 HomoloGene56389 GeneCards: COL11A1 Gene
RNA expression pattern
PBB GE COL11A1 37892 at tn.png
PBB GE COL11A1 204320 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1301 12814
Ensembl ENSG00000060718 ENSMUSG00000027966
UniProt P12107 Q61245
RefSeq (mRNA) NM_001190709 NM_007729
RefSeq (protein) NP_001177638 NP_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[edit]

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[edit]

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[edit]

  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[edit]

Further reading[edit]