BEX3

Chr X

brain expressed X-linked 3

Also known as: Bex, DXS6984E, HGR74, Hero20, NADE, NGFRAP1

NCBI Gene: 27018 ENSG00000166681 UniProt: Q00994

The BEX3 protein functions as a signaling adapter molecule in neuronal apoptosis pathways, particularly in nerve growth factor receptor-mediated cell death and zinc-triggered neuronal death, and acts as a pseudosubstrate regulator of the CRL2(FEM1B) ubiquitin ligase complex. Mutations in BEX3 cause X-linked intellectual disability with seizures and behavioral abnormalities. This X-linked condition primarily affects males, with females typically being unaffected carriers.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be involved in negative regulation of protein ubiquitination and signal transduction. Predicted to act upstream of or within extrinsic apoptotic signaling pathway via death domain receptors. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.96

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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