KLHL38

Chr 8

kelch like family member 38

Also known as: C8ORFK36

NCBI Gene: 340359 ENSG00000175946 UniProt: Q2WGJ6

The protein functions as a substrate adaptor for the Cul3-RING ubiquitin ligase complex, facilitating proteasome-mediated protein degradation in the cytoplasm. Mutations cause autosomal recessive congenital myopathy with fiber-type disproportion, characterized by early-onset muscle weakness and abnormal muscle fiber architecture. The gene shows moderate constraint against loss-of-function variants (LOEUF 1.245), suggesting some tolerance to such mutations.

ResearchSummary from RefSeq

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)