Gene Symbol | FOXE3 |
Entrez Gene ID | 2301 |
Full Name | forkhead box E3 |
Synonyms | AAT11,ASGD2,CTRCT34,FKHL12,FREAC8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Anterior segment dysgenesis 2, multiple subtypes, 610256 (3); Cataract 34, multiple types, 612968 (3); {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3) |