C10ORF53

Chr 10

chromosome 10 open reading frame 53

NCBI Gene: 282966 ENSG00000178645 UniProt: Q8N6V4

The protein encoded by this gene functions in mitochondrial ribosome assembly and is essential for mitochondrial protein synthesis. Mutations cause autosomal recessive mitochondrial complex I deficiency with early-onset encephalomyopathy, developmental delay, and seizures. The gene shows moderate constraint against loss-of-function variants, and affected children typically present in infancy with neurological and muscular manifestations.

Research

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

1.07

LOEUF

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Mechanism