Gene Symbol | ATOH7 |
Entrez Gene ID | 220202 |
Full Name | atonal bHLH transcription factor 7 |
Synonyms | Math5,NCRNA,PHPVAR,RNANC,bHLHa13 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3) |