NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1) encodes a core subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase). Complex I is the largest enzyme of the mitochondrial respiratory chain and is critical for cellular energy production. Mutations in NDUFV1 cause mitochondrial complex I deficiency and are associated with neurodegenerative diseases.
NDUFV1 is a key subunit of the NADH dehydrogenase (complex I) of the mitochondrial electron transport chain. It contains the flavin mononucleotide (FMN) binding site and is essential for electron transfer from NADH to ubiquinone.
| NADH:Ubiquinone Oxidoreductase Core Subunit V1 | |
|---|---|
| Gene Symbol | NDUFV1 |
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit V1 |
| Chromosome | 11q13.2 |
| NCBI Gene ID | 4719 |
| OMIM | 161015 |
| Ensembl ID | ENSG00000167792 |
| UniProt ID | P22415 |
NDUFV1 is essential for complex I function:
NDUFV1 is part of the peripheral arm:
NDUFV1 dysfunction is linked to PD:
NDUFV1 contributes to AD:
NDUFV1 mutations cause:
NDUFV1 dysfunction is implicated in:
NDUFV1-based therapies are under investigation:
| Agent | Mechanism | Status | Disease |
|---|---|---|---|
| CoQ10 | Electron shuttle | Clinical trial | PD |
| NAD+ precursors | Enhance function | Research | Neurodegeneration |
| Gene therapy | Restore expression | Preclinical | Leigh syndrome |
| Disease | Role | Evidence |
|---|---|---|
| Parkinson's Disease | Complex I deficiency | Reduced activity in SN |
| Alzheimer's Disease | Mitochondrial dysfunction | Impaired complex I |
| Leigh syndrome | Primary deficiency | NDUFV1 mutations |
| ALS | Secondary deficiency | Complex I defects |
NDUFV1 is expressed in brain tissue: