BHLHE22


Description

The BHLHE22 (basic helix-loop-helix family member e22) is a protein-coding gene located on chromosome 8.

BHLHE22 acts as a transcriptional repressor, inhibiting the DNA binding of specific transcription factor complexes, such as TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers. It suppresses the expression of Neurod1 and Myod-responsive genes, likely through interaction with class A basic helix-loop-helix factors. While possessing a basic domain, BHLHE22 itself does not bind to DNA. In the brain, BHLHE22 is implicated in establishing area-specific identities in postmitotic neurons and regulating the developmental hierarchy between neuronal progenitors and mature neurons. It is also associated with the survival of a particular group of inhibitory neurons in the spinal cord, which may play a role in itch sensation. BHLHE22 appears crucial for retinogenesis, particularly in the development of amacrine and bipolar cell subtypes. It interacts with PRDM8, forming a repressor complex that regulates genes important for neuronal development and differentiation.

BHLHE22 is also known as BHLHB5, Beta3, Beta3a, CAGL85, TNRC20.

Associated Diseases



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