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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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NDUFB11
NADH:ubiquinone oxidoreductase subunit B11
Chromosome X Β· Xp11.3
NCBI Gene: 54539Ensembl: ENSG00000147123.13HGNC: HGNC:20372UniProt: Q9NX14
57PubMed Papers
22Diseases
3Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein bindingmitochondrial inner membranerespiratory chain complex IMicrophthalmia with linear skin defects syndromelinear skin defects with multiple congenital anomalies 3mitochondrial complex I deficiencytype 2 diabetes mellitus
✦AI Summary

NDUFB11 encodes an accessory subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase) that is essential for proper enzyme assembly and function 1. This X-linked gene produces a small integral membrane protein required for complex I assembly, with reduced NDUFB11 expression leading to isolated complex I deficiency 1. The protein functions in the mitochondrial electron transport chain, facilitating electron transfer from NADH to ubiquinone as part of oxidative phosphorylation 2. Pathogenic variants in NDUFB11 cause diverse clinical phenotypes including neonatal lethal cardiomyopathy, hypertrophic cardiomyopathy with lactic acidosis, and optic atrophy 134. The gene shows incomplete penetrance, with pathogenic variants sometimes inherited from asymptomatic parents 5. Clinically, NDUFB11 deficiency can present as histiocytoid cardiomyopathy, congenital sideroblastic anemia, or isolated optic neuropathy, though phenotypic expression is highly variable even with identical mutations 14. The gene's role in mitochondrial metabolism also makes it relevant in other conditions, with reduced expression associated with atherosclerosis and chrX stress 6. Therapeutic targeting of complex I, including NDUFB11, shows promise in treating DNMT3A-mutant clonal hematopoiesis 7.

Sources cited
1
NDUFB11 encodes an accessory subunit essential for complex I assembly and causes diverse phenotypes including cardiomyopathy
PMID: 30423443
2
Novel mutations cause neonatal lethal cardiomyopathy through splicing defects affecting transcript expression
PMID: 36675256
3
NDUFB11 variants cause optic atrophy and are underrecognized causes of inherited optic neuropathies
PMID: 41234160
4
NDUFB11 shows incomplete penetrance with pathogenic variants inherited from asymptomatic parents
PMID: 38453051
5
NDUFB11 expression is reduced in atherosclerosis and chronic stress conditions
PMID: 37642954
6
Complex I components including NDUFB11 are therapeutic targets for DNMT3A-mutant clonal hematopoiesis
PMID: 40239706
7
NDUFB11 functions in mitochondrial oxidative phosphorylation and electron transport
PMID: 37699859
Disease Associationsβ“˜22
Microphthalmia with linear skin defects syndromeOpen Targets
0.74Strong
linear skin defects with multiple congenital anomalies 3Open Targets
0.69Moderate
mitochondrial complex I deficiencyOpen Targets
0.67Moderate
type 2 diabetes mellitusOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
histiocytoid cardiomyopathyOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
mitochondrial complex I deficiency, nuclear type 30Open Targets
0.49Moderate
NDUFB11-related disordersOpen Targets
0.45Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.40Moderate
obesityOpen Targets
0.40Weak
prediabetes syndromeOpen Targets
0.40Weak
metabolic syndromeOpen Targets
0.39Weak
type 1 diabetes mellitusOpen Targets
0.39Weak
Disorder of lipid metabolismOpen Targets
0.38Weak
agingOpen Targets
0.37Weak
cardiomyopathyOpen Targets
0.37Weak
mitochondrial diseaseOpen Targets
0.37Weak
Linear skin defects with multiple congenital anomalies 3UniProt
Mitochondrial complex I deficiency, nuclear type 30UniProt
Pathogenic Variants11
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)Pathogenic
Linear skin defects with multiple congenital anomalies 3|Histiocytoid cardiomyopathy|not provided|Linear skin defects with multiple congenital anomalies 3;Linear skin defects with multiple congenital anomalies 1;Mitochondrial complex I deficiency, nuclear type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 88
NM_001135998.3(NDUFB11):c.270CTT[2] (p.Phe93del)Pathogenic
not provided|Mitochondrial complex I deficiency, nuclear type 30|Mitochondrial complex I deficiency, nuclear type 30;Linear skin defects with multiple congenital anomalies 3
β˜…β˜…β˜†β˜†2025β†’ Residue 93
NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys)Pathogenic
Mitochondrial complex I deficiency, nuclear type 30|not provided|Linear skin defects with multiple congenital anomalies 3|Linear skin defects with multiple congenital anomalies 3;Mitochondrial complex I deficiency, nuclear type 30
β˜…β˜…β˜†β˜†2024β†’ Residue 121
NM_001135998.3(NDUFB11):c.385C>T (p.Arg129Ter)Likely pathogenic
Linear skin defects with multiple congenital anomalies 3|NDUFB11-related disorders
β˜…β˜…β˜†β˜†2023β†’ Residue 129
NM_001135998.3(NDUFB11):c.338+12delLikely pathogenic
Linear skin defects with multiple congenital anomalies 3
β˜…β˜†β˜†β˜†2025
NM_001135998.3(NDUFB11):c.34del (p.Arg12fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 12
NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2020β†’ Residue 52
NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 30
β˜…β˜†β˜†β˜†2018β†’ Residue 96
NM_001135998.3(NDUFB11):c.338+2T>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_001135998.3(NDUFB11):c.176dup (p.Glu60fs)Likely pathogenic
Linear skin defects with multiple congenital anomalies 3
β˜…β˜†β˜†β˜†β†’ Residue 60
NM_001135998.3(NDUFB11):c.372del (p.Arg124fs)Pathogenic
Linear skin defects with multiple congenital anomalies 3
β˜†β˜†β˜†β˜†2015β†’ Residue 124
View on ClinVar β†—
Drug Targets3
ME-344Phase I/II
Mitochondrial complex I (NADH dehydrogenase) inhibitor
breast cancer
METFORMINApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
diabetes mellitus
METFORMIN HYDROCHLORIDEApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
type 2 diabetes mellitus
Related Genes
ATP5MEProtein interaction100%COX5BProtein interaction100%COX6A2Protein interaction100%COX6B1Protein interaction100%COX7BProtein interaction100%ND1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
88%
Heart
69%
Lung
60%
Ovary
40%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
NDUFB11ATP5MECOX5BCOX6A2COX6B1COX7BND1
PROTEIN STRUCTURE
Preparing viewer…
PDB9CWT Β· 3.44 Γ… Β· EM
View on RCSB β†—
RankingsWhere NDUFB11 stands among ~20K protein-coding genes
  • #7,993of 20,598
    Most Researched57
  • #657of 1,025
    FDA-Approved Drug Targets2
  • #2,779of 5,498
    Most Pathogenic Variants11
Genes detectedNDUFB11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial metabolism sustains DNMT3A-R882-mutant clonal haematopoiesis.
PMID: 40239706
Nature Β· 2025
1.00
2
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
PMID: 38453051
Eur J Med Genet Β· 2024
0.90
3
NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
PMID: 37642954
Aging (Albany NY) Β· 2023
0.80
4
NDUFB11 and NDUFS3 regulate arterial atherosclerosis and venous thrombosis: Potential markers of atherosclerosis and venous thrombosis.
PMID: 37986300
Medicine (Baltimore) Β· 2023
0.70
5
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
PMID: 41234160
Brain Β· 2025
0.60