NDUFAF4

Chr 6AR

NADH:ubiquinone oxidoreductase complex assembly factor 4

Also known as: C6orf66, HRPAP20, HSPC125, MC1DN15, My013, bA22L21.1

NCBI Gene: 29078 ENSG00000123545 UniProt: Q9P032 OMIM: 611776

NDUFAF4 encodes a complex I assembly factor required for proper assembly of NADH:ubiquinone oxidoreductase (complex I), which catalyzes electron transfer from NADH to ubiquinone and proton translocation across the inner mitochondrial membrane. Autosomal recessive mutations cause mitochondrial complex I deficiency (nuclear type 15) through impaired complex I assembly. The pathogenic mechanism involves disrupted mitochondrial respiratory chain function due to defective complex I assembly rather than direct enzymatic dysfunction.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex I deficiency, nuclear type 15MIM #618237

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.72

LOEUF

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Mechanism