RCSD1

Chr 1

RCSD domain containing 1

Also known as: CAPZIP, MK2S4

NCBI Gene: 92241 ENSG00000198771 UniProt: Q6JBY9 OMIM: 610579

The RCSD1 protein binds actin filaments and is predicted to function in the WASH complex at early endosomes, with stress-induced phosphorylation potentially regulating actin filament remodeling. Mutations in RCSD1 cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.62).

OMIM ResearchSummary from RefSeq, UniProt

Enables actin filament binding activity. Involved in cellular hyperosmotic response. Predicted to be located in actin filament. Predicted to be part of WASH complex. Predicted to be active in early endosome. [provided by Alliance of Genome Resources, Jul 2025]

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

0.62

LOEUF

Mechanism· predicted