NP_036318.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
forkhead box protein E3
NCBI Official Synonym Full Names
forkhead box E3
NCBI Protein Information
forkhead box protein E3; FREAC-8; forkhead-related protein FKHL12; forkhead, drosophila, homolog-like 12; forkhead-related transcription factor 8
UniProt Protein Name
Forkhead box protein E3
UniProt Synonym Protein Names
Forkhead-related protein FKHL12; Forkhead-related transcription factor 8; FREAC-8
UniProt Synonym Gene Names
UniProt Entry Name
FOXE3_HUMAN
NCBI Summary for FOXE3
This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]
UniProt Comments for FOXE3
FOXE3: Defects in FOXE3 are a cause of anterior segment mesenchymal dysgenesis (ASMD); also known as anterior segment ocular dysgenesis (ASOD). ASMD consists of a range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Mature anterior segment anomalies are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Defects in FOXE3 are a cause of congenital primary aphakia (CPA). Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severe ocular defects.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 1p32
Cellular Component: transcription factor complex; nucleus
Molecular Function: sequence-specific DNA binding; transcription factor activity
Biological Process: regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; camera-type eye development; cell development; positive regulation of epithelial cell proliferation
Disease: Anterior Segment Mesenchymal Dysgenesis; Aphakia, Congenital Primary
Research Articles on FOXE3
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Products associated with anti-FOXE3 antibody
Diseases associated with anti-FOXE3 antibody
Organs/Tissues associated with anti-FOXE3 antibody
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