ATOH1


Description

The ATOH1 (atonal bHLH transcription factor 1) is a protein-coding gene located on chromosome 4.

ATOH1 (Atonal Homolog 1) is a protein encoded by the ATOH1 gene in humans. It belongs to the basic helix-loop-helix (BHLH) family of transcription factors and activates E-box dependent transcription alongside TCF3 (E47). ATOH1 is vital for the formation of both neural and non-neural cell types. Studies using genetic deletion in mice have demonstrated that Atoh1 is crucial for the development of cerebellar granule neurons, inner ear hair cells, spinal cord interneurons, Merkel cells of the skin, and intestinal secretory cells (goblet, enteroendocrine, and Paneth cells). ATOH1 is a mammalian homolog of the Drosophila melanogaster gene atonal and is considered part of the Notch signaling pathway. In 2009, ATOH1 was identified as a tumor suppressor gene.

ATOH1 is a transcriptional regulator that activates E box-dependent transcription in collaboration with TCF3/E47. However, its activity is completely inhibited by the negative regulator of neurogenesis, HES1. ATOH1 plays a crucial role in the differentiation of specific neural cell populations by activating E box-dependent transcription.

ATOH1 is also known as ATH1, DFNA89, HATH1, MATH-1, bHLHa14.

Associated Diseases



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