NDUFB10
Chr 16ARNADH:ubiquinone oxidoreductase subunit B10
Also known as: MC1DN35, PDSW
This protein is an accessory subunit required for the functional assembly of mitochondrial respiratory chain complex I, which transfers electrons from NADH to ubiquinone in the electron transport chain. Mutations cause mitochondrial complex I deficiency, nuclear type 35, inherited in an autosomal recessive pattern. Complex I deficiencies typically affect high-energy demanding tissues and can present with variable neurological, cardiac, and hepatic manifestations.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
NDUFB10 · 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