MRM3

Chr 17

mitochondrial rRNA methyltransferase 3

Also known as: RMTL1, RNMTL1

NCBI Gene: 55178 ENSG00000171861 UniProt: Q9HC36

This gene encodes a methyltransferase that modifies mitochondrial 16S ribosomal RNA at position 1370, which is essential for proper assembly and function of the large subunit of mitochondrial ribosomes. Mutations cause Combined Oxidative Phosphorylation Deficiency 7, an autosomal recessive mitochondrial disorder presenting in infancy with severe developmental delay, hypotonia, and lactic acidosis. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with autosomal recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.42

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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