NDUFS1
Chr 2ARNADH:ubiquinone oxidoreductase core subunit S1
Also known as: CI-75Kd, CI-75k, MC1DN5, PRO1304
The NDUFS1 protein is the largest subunit of mitochondrial complex I and functions as an NADH dehydrogenase that transfers electrons from NADH to ubiquinone in the respiratory chain, forming part of the active site where NADH is oxidized. Mutations cause mitochondrial complex I deficiency, nuclear type 5, which follows an autosomal recessive inheritance pattern. The pathogenic mechanism involves impaired electron transport chain function due to defective complex I assembly or activity.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
NDUFS1 · 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