MTERF4

Chr 2

mitochondrial transcription termination factor 4

Also known as: MTERFD2

NCBI Gene: 130916 ENSG00000122085 UniProt: Q7Z6M4 OMIM: 615393

The protein regulates mitochondrial ribosome biogenesis and translation by binding to mitochondrial ribosomal RNAs and targeting the NSUN4 methyltransferase to the large ribosomal subunit. Mutations cause autosomal recessive combined oxidative phosphorylation deficiency with severe intellectual disability, growth retardation, and metabolic abnormalities. The gene shows low constraint against loss-of-function variants, suggesting haploinsufficiency is tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Enables rRNA binding activity. Predicted to be involved in mitochondrial ribosome assembly and mitochondrial transcription. Predicted to act upstream of or within several processes, including camera-type eye development; protein targeting to mitochondrion; and ribosome assembly. Located in cytosol and mitochondrion. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

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Mechanism