DISEASES

Disease-gene associations mined from literature

Literature on BHLHE22

BHLHE22 [ENSP00000318799]

Trinucleotide repeat-containing gene 20 protein; Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal chord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.

Synonyms:  BHLHE22,  BHLHE22p,  hBHLHE22,  Q8NFJ8,  BHLHB5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM