WASHC2C

Chr 10

WASH complex subunit 2C

Also known as: FAM21A, FAM21C, VPEF

NCBI Gene: 253725 ENSG00000172661 UniProt: Q9Y4E1 OMIM: 613631

The protein functions as a component of the WASH core complex that activates actin polymerization at endosome surfaces, mediating endosomal transport and recycling of membrane proteins through binding to phospholipids and the retromer complex. Mutations cause autosomal recessive intellectual disability with seizures and spastic paraplegia, typically presenting in early childhood. The gene shows very low constraint to loss-of-function variants, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and retromer complex binding activity. Involved in several processes, including endosomal transport; negative regulation of barbed-end actin filament capping; and regulation of substrate adhesion-dependent cell spreading. Located in early endosome. Part of WASH complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

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Mechanism