HES6

Chr 2

hes family bHLH transcription factor 6

Also known as: C-HAIRY1, HES-6, bHLHb41, bHLHc23

NCBI Gene: 55502 ENSG00000144485 UniProt: Q96HZ4

The protein functions as a transcriptional cofactor that suppresses HES1-mediated repression and promotes cell differentiation by allowing transcription factors like ASCL1 to upregulate gene expression. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. This gene shows tolerance to loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.38

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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