Home > Gene Browser > BHLHE23

BHLHE23

Synonyms
BETA4, BHLHB4, Beta3b, bA305P22.3
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
446
Likely benign
424
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BHLHE23 gene.

Phenotype class
Patients in 3billion (%)

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