MEX3C

Chr 18

mex-3 RNA binding family member C

Also known as: BM-013, MEX-3C, RKHD2, RNF194

NCBI Gene: 51320 ENSG00000176624 UniProt: Q5U5Q3

The MEX3C protein is an E3 ubiquitin ligase that binds mRNA through its K homology domains and regulates mRNA stability and translation, including post-transcriptional regulation of HLA-A allotypes. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, following an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function mutations (pLI = 0.86, LOEUF = 0.41), consistent with its essential role in cellular RNA regulation.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]

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)

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P/LP submissions

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P/LP missense

0.41

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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