NDUFAB1: Acyl Carrier Protein of Mitochondrial Complex I
Essential subunit of NADH:ubiquinone oxidoreductase (Complex I) involved in mitochondrial energy metabolism and fatty acid synthesis.
Gene Information Card
| Symbol | NDUFAB1 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase subunit AB1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 4706 ncbi.nlm.nih.gov/gene/4706 |
| Ensembl ID | ENSG00000103544 |
| UniProt ID | O14561 |
| OMIM ID | 603836 |
| HGNC ID | 7694 |
| Aliases | SDAP, ACP, ACP1, CI-ACP |
Description
NDUFAB1 encodes the acyl carrier protein (ACP) component of mitochondrial NADH:ubiquinone oxidoreductase (Complex I). This protein is essential for the assembly and function of Complex I, the first enzyme of the mitochondrial electron transport chain. NDUFAB1 also participates in mitochondrial fatty acid synthesis (mtFAS) by providing acyl groups for lipoic acid biosynthesis. Mutations in NDUFAB1 are associated with mitochondrial complex I deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 1 | Loss-of-function mutations impair Complex I assembly and activity, leading to defective oxidative phosphorylation. | ClinVar, OMIM |
| Leigh syndrome | Biallelic pathogenic variants cause early-onset neurodegenerative disorder with bilateral brainstem lesions. | OMIM, PubMed |
| Cardioencephalomyopathy | Severe multisystem disorder with cardiomyopathy and encephalopathy due to Complex I dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.1 | High |
| Liver | 18.3 | Medium |
| Kidney | 15.7 | Medium |
| Brain | 12.4 | Medium |
| Lung | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | High expression |
| HeLa | 25.6 | High expression |
| HepG2 | 20.4 | Medium expression |
| K562 | 14.8 | Medium expression |
| SH-SY5Y | 18.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.179G>A (p.Arg60His) | Missense | Rare | Reduced Complex I activity; associated with Leigh syndrome |
| c.287T>C (p.Leu96Pro) | Missense | Rare | Impaired ACP function; mitochondrial complex I deficiency |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; severe encephalopathy |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish ACP function, impairing Complex I assembly and activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Mitochondrial fatty acid biosynthesis (Reactome: R-HSA-8978868)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFAB1 is a 156-amino acid acyl carrier protein (ACP) localized to the mitochondrial matrix. It contains a phosphopantetheine prosthetic group that binds acyl intermediates during mitochondrial fatty acid synthesis. As a subunit of Complex I, it is required for the assembly of the membrane arm and for electron transfer activity. The protein is highly conserved across species.
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