NDUFB11
Chr XX-linkedXLDNADH:ubiquinone oxidoreductase subunit B11
Also known as: CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3
The NDUFB11 protein is an accessory subunit of mitochondrial complex I (NADH dehydrogenase), which transfers electrons from NADH to ubiquinone in the respiratory chain. Mutations cause X-linked mitochondrial complex I deficiency and linear skin defects with multiple congenital anomalies 3, affecting both metabolic and developmental processes. This gene shows high constraint against loss-of-function variants (LOEUF 0.556), indicating that such mutations are likely to have significant clinical consequences.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDUFB11 · 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
External Resources
Links to major genomics databases and tools