KCTD13

Chr 16

potassium channel tetramerization domain containing 13

Also known as: BACURD1, FKSG86, PDIP1, POLDIP1, hBACURD1

NCBI Gene: 253980 ENSG00000174943 UniProt: Q8WZ19

The protein functions as a substrate-specific adapter in a BCR E3 ubiquitin ligase complex that degrades RHOA to regulate the actin cytoskeleton and promote synaptic transmission. Mutations cause neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and developmental delay, typically with autosomal dominant inheritance. This gene is not highly constrained against loss-of-function variants, suggesting that both loss and gain of function may contribute to pathogenicity in different contexts.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity and small GTPase binding activity. Contributes to ubiquitin-protein transferase activity. Involved in several processes, including negative regulation of Rho protein signal transduction; proteasome-mediated ubiquitin-dependent protein catabolic process; and stress fiber assembly. Located in nuclear body. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.95

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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