NDUFAB1

Chr 16

NADH:ubiquinone oxidoreductase subunit AB1

Also known as: ACP, ACP1, FASN2A, SDAP

NCBI Gene: 4706ENSG00000004779UniProt: O14561

Enables mitochondrial large ribosomal subunit binding activity. Involved in [2Fe-2S] cluster assembly and protein lipoylation. Located in mitochondrial inner membrane and nucleoplasm. Part of mitochondrial [2Fe-2S] assembly complex and respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2025]

71
ClinVar variants
33
Pathogenic / LP
0.53
pLI score
0
Active trials
Clinical Summary— NDUFAB1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.53) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 34 VUS of 71 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.75LOEUF
pLI 0.527
Z-score 1.96
OE 0.16 (0.06–0.75)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.16Z-score
OE missense 0.95 (0.80–1.14)
82 obs / 86.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.16 (0.06–0.75)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.95 (0.80–1.14)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 1 / 6.3Missense obs/exp: 82 / 86.2Syn Z: 0.12

ClinVar Variant Classifications

71 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic30
Likely Pathogenic3
VUS34
Likely Benign2
Benign2
30
Pathogenic
3
Likely Pathogenic
34
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
30
0
30
Likely Pathogenic
0
0
3
0
3
VUS
0
29
5
0
34
Likely Benign
0
2
0
0
2
Benign
0
1
0
1
2
Total03238171

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View 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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
ESRRA (estrogen related receptor alpha) is a critical regulator of intestinal homeostasis through activation of autophagic flux via gut microbiota.
Kim S et al.·Autophagy
2021
Bioinformatics insights into mitochondrial and immune gene regulation in Alzheimer's disease.
Meng T et al.·Eur J Med Res
2025
m6A related metabolic genes in breast cancer and their relationship with prognosis.
Tao Y et al.·Int Immunopharmacol
2025
Identification of a novel lipid metabolism-related gene signature within the tumour immune microenvironment for breast cancer.
Chang X et al.·Lipids Health Dis
2022
Proteomic profiling of bone tissue reveals distinct pathways in men and women with osteoporosis.
Lin X et al.·Age Ageing
2025
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston CL et al.·Am J Hum Genet
2018
Establishing a Proteomics-Based Signature of AKR1C3-Related Genes for Predicting the Prognosis of Prostate Cancer.
Cui X et al.·Int J Mol Sci
2023
Proteomics and metabolomics identify molecular mechanisms of aging potentially predisposing for chronic lymphocytic leukemia.
Mayer RL et al.·Mol Cell Proteomics
2018Functional
A novel Alzheimer's disease prognostic signature: identification and analysis of glutamine metabolism genes in immunogenicity and immunotherapy efficacy.
Wu Z et al.·Sci Rep
2023
Integrating Single-Cell RNA-Seq and Bulk RNA-Seq Data to Explore the Key Role of Fatty Acid Metabolism in Breast Cancer.
Chen Y et al.·Int J Mol Sci
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
NDUFAB1 promotes hepatocellular carcinoma progression by disrupting mitochondrial homeostasis and mitophagy pathway.
Yao Z et al.·Int Immunopharmacol
2025
Integrative single-cell and spatial transcriptomics uncover ELK4-mediated mechanisms in NDUFAB1+ tumor cells driving gastric cancer progression, metabolic reprogramming, and immune evasion.
Sun Y et al.·Front Immunol
2025🔓 Open AccessFunctional
NDUFAB1 as a Novel Regulator of NEFA-Induced Metabolic Dysfunction in Bovine Adipocytes.
Zhou J et al.·Animals (Basel)
2025🔓 Open Access
NDUFAB1 protects against obesity and insulin resistance by enhancing mitochondrial metabolism.
Zhang R et al.·FASEB J
2019🔓 Open Access
NDUFAB1 confers cardio-protection by enhancing mitochondrial bioenergetics through coordination of respiratory complex and supercomplex assembly.
Hou T et al.·Cell Res
2019🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools