NDUFAF1
Chr 15ARNADH:ubiquinone oxidoreductase complex assembly factor 1
Also known as: CGI-65, CGI65, CIA30, MC1DN11
The protein is a complex I assembly factor required for proper assembly of mitochondrial complex I (NADH-ubiquinone oxidoreductase), which catalyzes electron transfer from NADH to coenzyme Q in the respiratory chain. Mutations cause mitochondrial complex I deficiency through an autosomal recessive inheritance pattern. The pathogenic mechanism involves disrupted complex I assembly leading to impaired mitochondrial respiratory function.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDUFAF1 · 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