BEX4

Chr X

brain expressed X-linked 4

Also known as: BEXL1

NCBI Gene: 56271 ENSG00000102409 UniProt: Q9NWD9 OMIM: 300692

The BEX4 protein regulates microtubule deacetylation by modulating SIRT2 deacetylase activity and acts as a pseudosubstrate for the CRL2(FEM1B) complex, participating in cell cycle progression and genomic stability. Mutations cause X-linked intellectual disability with variable additional features including seizures and developmental delays. This follows X-linked inheritance, affecting primarily males with carrier females potentially showing mild symptoms.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]

OMIM 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)

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P/LP submissions

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P/LP missense

0.82

LOEUF

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Mechanism