LRRC47

Chr 1

leucine rich repeat containing 47

NCBI Gene: 57470 ENSG00000130764 UniProt: Q8N1G4

The protein enables RNA binding and is predicted to be involved in phenylalanyl-tRNA aminoacylation, a process essential for protein synthesis. Mutations cause autosomal recessive intellectual developmental disorder with seizures and language delay. This gene is highly constrained against loss-of-function variants (pLI 0.87, LOEUF 0.41), indicating that complete loss of function is likely not tolerated.

ResearchSummary from RefSeq

Enables RNA binding activity. Predicted to be involved in phenylalanyl-tRNA aminoacylation. [provided by Alliance of Genome Resources, Jul 2025]

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

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Mechanism

Some data sources returned errors (1)

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