BHLHE23

Chr 20

basic helix-loop-helix family member e23

Also known as: BETA4, BHLHB4, Beta3b, bA305P22.3

NCBI Gene: 128408 ENSG00000125533 UniProt: Q8NDY6 OMIM: 609331

This gene encodes a basic helix-loop-helix transcription factor that functions as a transcriptional repressor and modulates gene expression required for pancreatic and neuronal cell differentiation and maintenance, with particular importance for rod bipolar cell maturation in the retina. Mutations cause autosomal recessive retinal dystrophy with early childhood onset, affecting primarily the visual system. The gene shows moderate tolerance to loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.55

LOEUF

Mechanism· predicted