Gene Symbol | OVOL2 |
Entrez Gene ID | 58495 |
Full Name | ovo like zinc finger 2 |
Synonyms | CHED,CHED1,CHED2,EUROIMAGE566589,PPCD1,ZNF339 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]. |
Disorder MIM: | |
Disorder Html: | Corneal dystrophy, posterior polymorphous, 1, 122000 (3) |