ATOH1
Function
Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity).
Involvement in disease
Deafness, autosomal dominant, 89
DFNA89
An autosomal dominant form of non-syndromic deafness characterized by progressive hearing loss, with onset at birth or early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
ATH1, BHLHA14, ATOH1, Transcription factor ATOH1, Atonal bHLH transcription factor 1, Class A basic helix-loop-helix protein 14, Helix-loop-helix protein hATH-1, Protein atonal homolog 1, bHLHa14, hATH1