KCTD5

Chr 16

potassium channel tetramerization domain containing 5

NCBI Gene: 54442 ENSG00000167977 UniProt: Q9NXV2

KCTD5 encodes a protein that functions as a substrate adapter in E3 ubiquitin ligase complexes, facilitating targeted protein degradation through the ubiquitin-proteasome system. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and progressive neurodegeneration. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.789), consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

—

P/LP missense

0.79

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429