ETFRF1

Chr 12

electron transfer flavoprotein regulatory factor 1

Also known as: LYRM5

NCBI Gene: 144363 ENSG00000205707 UniProt: Q6IPR1

The protein regulates the electron transfer flavoprotein by promoting flavin removal from the ETF holoenzyme and participates in the mitochondrial respiratory electron transport chain. Mutations cause multiple acyl-CoA dehydrogenase deficiency, an autosomal recessive disorder affecting fatty acid oxidation that can present from the neonatal period through adulthood with episodes of hypoglycemia, metabolic acidosis, and muscle weakness. The gene shows very high constraint against loss-of-function variants, indicating mutations are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

Enables enzyme inhibitor activity. Involved in negative regulation of oxidative phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.96

LOEUF

Multiple*

Mechanism· predicted