NDUFA12
NADH:Ubiquinone Oxidoreductase Subunit A12
Gene Information Card
| Symbol | NDUFA12 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit A12 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q22 |
| NCBI Gene ID | 55967 ncbi.nlm.nih.gov/gene/55967 |
| Ensembl ID | ENSG00000184752 |
| UniProt ID | Q9UI09 |
| OMIM ID | 603831 |
| HGNC ID | 7692 |
| Aliases | CI-B14.5b, B14.5b, MC1DN28 |
Description
NDUFA12 encodes a 14.5 kDa accessory subunit of mitochondrial NADH:ubiquinone oxidoreductase (Complex I), the first enzyme of the electron transport chain. This subunit is part of the peripheral arm of Complex I and is required for proper assembly and stability of the holoenzyme. Mutations in NDUFA12 cause mitochondrial complex I deficiency, nuclear type 28 (MC1DN28), often presenting as Leigh syndrome or other early-onset neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) | Biallelic loss-of-function mutations impair Complex I assembly and activity, leading to reduced ATP production and oxidative stress. | ClinVar, OMIM |
| Leigh syndrome | Defective Complex I due to NDUFA12 mutations disrupts mitochondrial energy metabolism in the brainstem and basal ganglia. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 7.6 | Medium |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.0 | Medium expression |
| SH-SY5Y | 9.5 | Medium expression |
| HepG2 | 8.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.178C>T (p.Arg60Trp) | Missense | Rare | Reduced Complex I activity and assembly |
| c.206G>A (p.Arg69His) | Missense | Rare | Impaired subunit incorporation |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most NDUFA12 mutations are loss-of-function, leading to decreased 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 autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex I assembly | • NADH dehydrogenase (ubiquinone) activity |
| • mitochondrial inner membrane | • oxidation-reduction process |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFA12 is a 145-amino acid protein (14.5 kDa) located in the mitochondrial inner membrane as part of Complex I. It contains a conserved domain that interacts with other subunits to stabilize the peripheral arm. The protein is ubiquitously expressed with highest levels in heart and skeletal muscle. Defects in NDUFA12 disrupt Complex I assembly, leading to mitochondrial encephalopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFA12 Knockout HEK293 Cell Line | EDJ-KQ14403 | Human | 55967 | Details Get a Quote |
| NDUFA12 Knockout A-549 Cell Line | EDJ-KQ44589 | Human | 55967 | Details Get a Quote |
| NDUFA12 Knockout HCT 116 Cell Line | EDJ-KQ44590 | Human | 55967 | Details Get a Quote |
| NDUFA12 Knockout HeLa Cell Line | EDJ-KQ43337 | Human | 55967 | Details Get a Quote |
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