NDUFAB1
Chr 16NADH:ubiquinone oxidoreductase subunit AB1
Also known as: ACP, ACP1, FASN2A, SDAP
The NDUFAB1 protein functions as an accessory subunit of mitochondrial respiratory chain complex I and serves as a regulatory component of the iron-sulfur cluster assembly machinery that is essential for mitochondrial protein biogenesis. Mutations cause autosomal recessive mitochondrial complex I deficiency presenting with early-onset neurodegeneration, developmental delay, and multisystem involvement including cardiac and hepatic dysfunction. The gene shows moderate constraint against loss-of-function variants, consistent with its essential role in mitochondrial energy metabolism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
NDUFAB1 · 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