ATOH1 Chromosome 4
Atonal bHLH transcription factor 1
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
4q22.2
Ensembl
ENSG00000172238
Associated Conditions (3)
Dominant progressive sensorineural hearing loss
Hearing loss
autosomal dominant 89
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1578814396 | Health Risk | Pathogenic | Dominant progressive sensorineural hearing loss, Hearing loss, autosomal dominant 89 |