KCTD18

Chr 2

potassium channel tetramerization domain containing 18

Also known as: 6530404F10Rik

NCBI Gene: 130535 ENSG00000155729 UniProt: Q6PI47

The KCTD18 protein is predicted to enable identical protein binding and participate in ion transport across cell membranes and protein complex formation. Mutations cause neurodevelopmental disorders with intellectual disability and seizures, inherited in an autosomal recessive pattern. This gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where both copies must be affected to cause disease.

ResearchSummary from RefSeq

Predicted to enable identical protein binding activity. Predicted to be involved in monoatomic ion transmembrane transport and protein homooligomerization. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.42

LOEUF

Mechanism· predicted