NDUFAF4
Chr 6ARNADH:ubiquinone oxidoreductase complex assembly factor 4
Also known as: C6orf66, HRPAP20, HSPC125, MC1DN15, My013, bA22L21.1
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.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDUFAF4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools