NDUFA8
NADH:Ubiquinone Oxidoreductase Subunit A8
Gene Information Card
| Symbol | NDUFA8 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit A8 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 4702 ncbi.nlm.nih.gov/gene/4702 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | P51970 |
| OMIM ID | 603359 |
| HGNC ID | 7690 |
| Aliases | CI-19, CI-19kD, MC1DN23, NADH-ubiquinone oxidoreductase 19 kDa subunit |
Description
NDUFA8 encodes a 19 kDa subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the electron transport chain. This nuclear-encoded accessory subunit is essential for complex I assembly and stability. Mutations in NDUFA8 cause mitochondrial complex I deficiency, leading to Leigh syndrome and other early-onset neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 23 (MC1DN23) | Loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | OMIM #618244; ClinVar |
| Leigh syndrome | Defective complex I leads to energy failure in the basal ganglia and brainstem, causing neurodegeneration. | Case reports; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Brain | 7.9 | Medium |
| Kidney | 7.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.0 | High expression |
| SH-SY5Y | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.206G>A (p.Arg69His) | Missense | Rare | Reduced complex I activity; associated with Leigh syndrome |
| c.334C>T (p.Arg112Trp) | Missense | Rare | Impaired assembly; mitochondrial complex I deficiency |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish NDUFA8 protein function, leading to complex I deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; all known pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • mitochondrial inner membrane | • electron transport chain |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Parkinson disease (KEGG: hsa05012)
• Thermogenesis (KEGG: hsa04714)
Protein Summary
NDUFA8 is a 19 kDa accessory subunit of mitochondrial complex I, located in the inner mitochondrial membrane. It is not directly involved in electron transfer but is critical for the assembly and stability of the holoenzyme. The protein contains a conserved domain that mediates interactions with other complex I subunits. Loss of NDUFA8 function disrupts complex I activity, leading to energy metabolism disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFA8 Knockout HEK293 Cell Line | EDJ-KQ5312 | Human | 4702 | Details Get a Quote |
| NDUFA8 Knockout HCT 116 Cell Line | EDJ-KQ28380 | Human | 4702 | Details Get a Quote |
| NDUFA8 Knockout HeLa Cell Line | EDJ-KQ28381 | Human | 4702 | Details Get a Quote |
| NDUFA8 Knockout A-549 Cell Line | EDJ-KQ62460 | Human | 4702 | Details Get a Quote |
