NDUFAF5
Chr 20ARNADH:ubiquinone oxidoreductase complex assembly factor 5
Also known as: C20orf7, MC1DN16, bA526K24.2, dJ842G6.1
The protein is required for assembly of mitochondrial respiratory chain complex I, which catalyzes electron transfer from NADH to ubiquinone. Mutations cause mitochondrial complex I deficiency, nuclear type 16, inherited in an autosomal recessive pattern. The pathogenic mechanism involves impaired complex I assembly leading to deficient mitochondrial respiratory chain function.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDUFAF5 · 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