NDUFV3

Chr 21

NADH:ubiquinone oxidoreductase subunit V3

NCBI Gene: 4731 ENSG00000160194 UniProt: P56181 OMIM: 602184

The NDUFV3 protein is an accessory subunit of mitochondrial respiratory chain Complex I (NADH dehydrogenase), which transfers electrons from NADH to ubiquinone in cellular energy production. Mutations cause mitochondrial complex I deficiency, typically presenting as a multisystem disorder affecting high-energy demanding organs including the brain, heart, and skeletal muscle with autosomal recessive inheritance. This gene is extremely intolerant to loss-of-function variants, indicating that even single functional copies are insufficient for normal cellular function.

OMIM ResearchSummary from RefSeq, UniProt

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.87

LOEUF

Mechanism· predicted