ATOH7 gene

atonal bHLH transcription factor 7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcription factor involved in the differentiation of retinal ganglion cells.

From UniProt:

Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR): 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. [MIM:221900]

Cytogenetic Location: 10q21.3, which is the long (q) arm of chromosome 10 at position 21.3

Molecular Location: base pairs 68,230,595 to 68,232,113 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q21.3, which is the long (q) arm of chromosome 10 at position 21.3
  • bHLHa13
  • Math5
  • NCRNA
  • PHPVAR
  • RNANC