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Collagen, type XI, alpha 1

From Wikipedia, the free encyclopedia
COL11A1
Identifiers
AliasesCOL11A1, collagen, type XI, alpha 1, CO11A1, COLL6, STL2, collagen type XI alpha 1, collagen type XI alpha 1 chain, DFNA37
External IDsOMIM: 120280; MGI: 88446; HomoloGene: 56389; GeneCards: COL11A1; OMA:COL11A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190709
NM_001854
NM_080629
NM_080630

NM_007729

RefSeq (protein)

NP_001177638
NP_001845
NP_542196
NP_542197

NP_031755

Location (UCSC)Chr 1: 102.88 – 103.11 MbChr 3: 113.82 – 114.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.[5][6]

Function

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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.[6]

Clinical significance

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Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.[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.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000060718Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027966Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. doi:10.1016/S0021-9258(18)37512-4. PMID 3182841.
  6. ^ a b c "Entrez Gene: COL11A1 collagen, type XI, alpha 1".
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Further reading

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