Atonal, Drosophila, Homolog Of, 1

Alternative Names

  • ATOH1
  • MATH1, Mouse, Homolog of
  • ATH1
  • HATH1
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OMIM Number

601461

Gene Map Locus
4q22.2

Description

The ATOH1 gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors. Specifically, ATOH1 interacts with E47 to activate E-box dependent transcription and plays a role in the differentiation of progenitors into secretory cells such as goblet, enteroendocrine, and Paneth cells. ATOH1 activity is inhibited by HES1, a transcription factor that negatively regulates neurogenesis. By carrying out its function, ATOH1 is believed to be involved in the biological processes of Notch signaling pathway, auditory receptor cell fate determination and cerebral cortex development.

Molecular Genetics

Located on the long arm of chromosome 4, the ATOH1 gene spans a length of 2.2 kb. Its coding sequence is contained within a single exon and it encodes a 38 kDa protein product made up of 354 amino acids. The gene is overexpressed in the brain, spinal cord, lung, colon and small intestine.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) analyzed 337 Intellectual Disability (ID) patients and found genomic tools to have a higher diagnostic yield than standard clinical evaluations. By using exome sequencing the authors found a homozygous c.212del (p.Gly71Alafs*36) mutation in the ATOH1 gene of a 15 month old boy. The patient suffered from pontocerebellar hypoplasia, hypoplasia of the cerebellum and brainstem, frontal lobe atrophy and generalized hypotonia. Dysmorphic features included an open mouth, a tented upper lip and nystagmus with poor visual tracking. The authors noted that Atoh1 knockout mice have shown a similar pontocerebellar hypoplasia phenotype. Furthermore, the variant was a loss-of-function mutation that segregated fully with the phenotype and had a minor allele frequency <0.001 based on 1500 Saudi exomes. 

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