NDUFAF2
Chr 5ARNADH:ubiquinone oxidoreductase complex assembly factor 2
Also known as: B17.2L, MC1DN10, MMTN, NDUFA12L, mimitin
The protein functions as an assembly factor for mitochondrial complex I, which catalyzes electron transfer from NADH to ubiquinone in the respiratory chain. Mutations cause mitochondrial complex I deficiency with progressive encephalopathy, inherited in an autosomal recessive pattern. The pathogenic mechanism involves loss of protein function leading to impaired complex I assembly and subsequent mitochondrial dysfunction.
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
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDUFAF2 · 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