MRPS34

Chr 16

mitochondrial ribosomal protein S34

Also known as: COXPD32, MRP-S12, MRP-S34, mS34

NCBI Gene: 65993 ENSG00000074071 UniProt: P82930

This protein is required for mitochondrial translation and maintains the stability of the small ribosomal subunit and 12S rRNA needed for mitoribosome formation. Mutations cause combined oxidative phosphorylation deficiency 32, inherited in an autosomal recessive pattern. The gene shows relatively low constraint to loss-of-function variation (pLI 0.003, LOEUF 1.72).

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCombined oxidative phosphorylation deficiency 32

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.72

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MRPS34