ATOH7

ATOH7 is a member of the family of basic helix-loop-helix (bHLH) proteins with similarity to Drosophila 'atonal,' a proneural bHLH gene that controls photoreceptor development (Brown et al., 2002 [PubMed 11889557]).[supplied by OMIM

Full Name

atonal homolog 7 (Drosophila)

Function

Transcription factor that positively regulates the determination of retinal ganglion cell fate and formation of the optic nerve and retino-hypothalamic tract (By similarity).
Required for retinal circadian rhythm photoentrainment (By similarity).

Biological Process

Circadian rhythm Source: Ensembl
Entrainment of circadian clock by photoperiod Source: UniProtKB
Neural retina development Source: MGI
Neuron differentiation Source: GO_Central
Optic nerve development Source: MGI
Regulation of transcription by RNA polymerase II Source: GO_Central

Cellular Location

Nucleus

Involvement in disease

Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR): The disease is caused by variants affecting the gene represented in this entry. A 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 has been found in PHPVAR patients (PubMed:21441919). A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment.