WASHC4

Chr 12

WASH complex subunit 4

Also known as: KIAA1033, MRT43, SWIP

NCBI Gene: 23325 ENSG00000136051 UniProt: Q2M389

The protein acts as a component of the WASH core complex that recruits and activates the Arp2/3 complex to induce actin polymerization at endosome surfaces, playing a key role in endosome sorting and tubule fission during intracellular transport. Mutations cause autosomal recessive intellectual developmental disorder. The gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 43

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

0.45

LOEUF

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Mechanism

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