MTRFR

Chr 12

mitochondrial translation release factor in rescue

Also known as: C12orf65, COXPD7, SPG55, mtRF-R

NCBI Gene: 91574 ENSG00000130921 UniProt: Q9H3J6

The protein contributes to peptide chain termination in mitochondrial translation machinery and functions as part of a mitoribosome-associated quality control pathway that ejects unfinished nascent chains from stalled ribosomes. Mutations cause combined oxidative phosphorylation deficiency 7 and spastic paraplegia 55 through autosomal recessive inheritance, resulting in decreased mitochondrial translation and reduced levels of oxidative phosphorylation complexes that lead to encephalomyopathy.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 7

UniProtSpastic paraplegia 55, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.91

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MTRFR