KLHL14

Chr 18

kelch like family member 14

NCBI Gene: 57565 ENSG00000197705 UniProt: Q9P2G3

The encoded protein contains six Kelch domains and localizes to the endoplasmic reticulum where it interacts with torsin-1A. Biallelic mutations cause autosomal recessive intellectual disability with seizures and spasticity. This gene is highly constrained against loss-of-function variants (LOEUF 0.495), suggesting intolerance to protein loss.

ResearchSummary from RefSeq

The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]

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

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P/LP missense

0.49

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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