ATOH1
Chr 4ADatonal bHLH transcription factor 1
Also known as: ATH1, DFNA89, HATH1, MATH-1, bHLHa14
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including neuron differentiation; positive regulation of neuron differentiation; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; neuroblast migration; and positive regulation of inner ear auditory receptor cell differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in autosomal dominant nonsyndromic deafness 89. [provided by Alliance of Genome Resources, Apr 2025]
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATOH1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools