ZSWIM4

Chr 19

zinc finger SWIM-type containing 4

NCBI Gene: 65249 ENSG00000132003 UniProt: Q9H7M6 OMIM: 620539

ZSWIM4 encodes a protein predicted to bind zinc ions and participate in the Cul2-RING ubiquitin ligase complex involved in protein degradation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with severe intellectual disability and refractory seizures. The gene shows tolerance to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq

Predicted to enable zinc ion binding activity. Predicted to be part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.57

LOEUF

Multiple*

Mechanism· predicted