FOXE3

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Forkhead box E3
Identifiers
Symbols FOXE3 ; FKHL12; FREAC8
External IDs OMIM601094 MGI1353569 HomoloGene32145 GeneCards: FOXE3 Gene
Orthologs
Species Human Mouse
Entrez 2301 30923
Ensembl ENSG00000186790 ENSMUSG00000044518
UniProt Q13461 Q9QY14
RefSeq (mRNA) NM_012186 NM_015758
RefSeq (protein) NP_036318 NP_056573
Location (UCSC) Chr 1:
47.88 – 47.88 Mb
Chr 4:
114.93 – 114.93 Mb
PubMed search [1] [2]

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.[1]

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.[2]

Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia,[3][4] sclerocornea, microphthalmia, and optic disc coloboma.[5] 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),[2] and Peter's anomaly.[6]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: forkhead box E3". 
  2. ^ 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. 
  3. ^ 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 2846847. PMID 20361012. 
  4. ^ 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 1559477. PMID 16826526. 
  5. ^ 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 2901196. PMID 20664696. 
  6. ^ 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). doi:10.1038/ejhg.2010.210. PMC 3062009. PMID 21150893. 

Further reading[edit]