KLHL42

Chr 12

kelch like family member 42

Also known as: Ctb9, KLHDC5

NCBI Gene: 57542 ENSG00000087448 UniProt: Q9P2K6 OMIM: 618919

The protein functions as a substrate-specific adapter in the BCR E3 ubiquitin ligase complex, mediating ubiquitination and degradation of KATNA1 to regulate microtubule dynamics during mitosis and cytokinesis. Mutations in KLHL42 cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delays. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Contributes to ubiquitin-protein transferase activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process; protein polyubiquitination; and regulation of microtubule-based process. Part of Cul3-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

0.72

LOEUF

Multiple*

Mechanism· predicted