AAL11911.1
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NCBI Official Full Name
ATOH7
UniProt Comments for ATOH7
ATOH7: Transcription factor involved in the differentiation of retinal ganglion cells. Defects in ATOH7 are the cause of retinal non-attachment congenital non-syndromic (RNANC). A condition characterized by separation of the inner layers of the retina (neural retina) from the pigment epithelium. Clinical findings include lack of perception of light, massive retrolental mass, shallow anterior chamber, and nystagmus in otherwise normal individuals. RNANC is caused by a 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7.
Chromosomal Location of Human Ortholog: 10q21.3|10q21.3-q22.1
Cellular Component: nucleus
Molecular Function: protein dimerization activity; DNA binding
Biological Process: circadian rhythm; transcription, DNA-dependent; regulation of transcription, DNA-dependent; optic nerve development; entrainment of circadian clock; cell differentiation
Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
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