KCTD9

Chr 8

potassium channel tetramerization domain containing 9

Also known as: BTBD27

NCBI Gene: 54793 ENSG00000104756 UniProt: Q7L273 OMIM: 617265

The protein functions as a substrate-specific adapter in BCR E3 ubiquitin-protein ligase complexes, mediating target protein ubiquitination and proteasomal degradation. KCTD9 mutations cause autosomal recessive epileptic encephalopathy with onset in infancy, characterized by severe developmental delay and refractory seizures. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.523), consistent with its association with recessive disease.

OMIM ResearchSummary from RefSeq, UniProt

Enables cullin family protein binding activity and identical protein binding activity. Predicted to be involved in intracellular signal transduction; protein homooligomerization; and protein ubiquitination. Predicted to act upstream of or within several processes, including NK T cell lineage commitment; natural killer cell activation; and response to virus. [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

0.52

LOEUF

Multiple*

Mechanism· predicted