GRSF1

Chr 4

G-rich RNA sequence binding factor 1

NCBI Gene: 2926 ENSG00000132463 UniProt: Q12849 OMIM: 604851

GRSF1 encodes a regulator of post-transcriptional mitochondrial gene expression that binds G-rich RNA elements and is required for mitochondrial ribosome assembly and recruitment of mitochondrial mRNAs and long non-coding RNAs. Mutations cause mitochondrial neurodegeneration, cataracts, and hearing loss with infantile onset, following autosomal recessive inheritance. The gene shows no constraint against loss-of-function variants (pLI near zero), consistent with recessive disease causation.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.23

LOEUF

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Mechanism