FOXE3

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FOXE3
Identifiers
Aliases FOXE3, FKHL12, FREAC8, forkhead box E3
External IDs GeneCards: 2301
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012186

n/a

RefSeq (protein)

NP_036318.1

n/a

Location (UCSC) Chr 1: 47.42 – 47.42 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.[2]

Function[edit]

FOXE3 is a forkhead-box transcription factor which is involved in the proper formation of the ocular lens and is post-natally expressed in the lens epithelium.

Clinical significance[edit]

Mutations in the FOXE3 gene are associated with anterior segment mesenchymal dysgenesis.[3]

Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia,[4][5] sclerocornea, microphthalmia, and optic disc coloboma.[6] There have also been reports of heterozygous mutations causing less severe ocular diseases such as anterior segment dysgenesis (sometimes referred to as anterior segment mesenchymal dysgenesis),[3] and Peter's anomaly.[7]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Entrez Gene: forkhead box E3". 
  3. ^ a b Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M (February 2001). "Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts". Hum. Mol. Genet. 10 (3): 231–6. doi:10.1093/hmg/10.3.231. PMID 11159941. 
  4. ^ Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L (2010). "A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family". Mol. Vis. 16: 549–55. PMC 2846847free to read. PMID 20361012. 
  5. ^ Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B (August 2006). "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans". Am. J. Hum. Genet. 79 (2): 358–64. doi:10.1086/505654. PMC 1559477free to read. PMID 16826526. 
  6. ^ Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC (2010). "Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma". Mol. Vis. 16: 1162–8. PMC 2901196free to read. PMID 20664696. 
  7. ^ Doucette, Lance; Jane Green; Bridget Fernandez; Gordon J Johnson; Patrick Parfrey; Terry-Lynn Young (2011). "A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly". European Journal of Human Genetics. 19 (3): 293–299. doi:10.1038/ejhg.2010.210. PMC 3062009free to read. PMID 21150893. 

Further reading[edit]