NDUFV2 (NADH:Ubiquinone Oxidoreductase Core Subunit V2) encodes a core subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase). It is a key component of the NADH dehydrogenase module and is essential for electron transfer from NADH to ubiquinone. Mutations in NDUFV2 are associated with mitochondrial complex I deficiency and neurodegenerative diseases.
NDUFV2 is a key subunit of complex I, part of the N-module responsible for NADH oxidation. It interacts closely with NDUFV1 and contains binding sites for the electron carriers involved in the initial steps of electron transfer.
| NADH:Ubiquinone Oxidoreductase Core Subunit V2 | |
|---|---|
| Gene Symbol | NDUFV2 |
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit V2 |
| Chromosome | 25p13 |
| NCBI Gene ID | 4729 |
| OMIM | 161017 |
| Ensembl ID | ENSG00000170921 |
| UniProt ID | P23378 |
NDUFV2 is essential for complex I function:
NDUFV2 is part of the N-module:
NDUFV2 dysfunction is linked to PD:
NDUFV2 contributes to AD:
NDUFV2 mutations cause:
NDUFV2 is implicated in HD:
NDUFV2-based therapies are under investigation:
| Agent | Mechanism | Status | Disease |
|---|---|---|---|
| CoQ10 | Electron shuttle | Clinical trial | PD |
| Nicotinamide riboside | NAD+ precursor | Research | Mitochondrial disease |
| Mitochondrial peptides | Improve function | Preclinical | Neuroprotection |
| Disease | Role | Evidence |
|---|---|---|
| Parkinson's Disease | Complex I deficiency | Reduced NDUFV2 in SN |
| Alzheimer's Disease | Mitochondrial dysfunction | Impaired complex I |
| Leigh syndrome | Primary deficiency | NDUFV2 mutations |
| Huntington's disease | Secondary deficiency | Complex I defects |
NDUFV2 is expressed in brain tissue: