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. [1]
| NADH:Ubiquinone Oxidoreductase Core Subunit V2 | |
|---|---|
| Gene Symbol | NDUFV2 |
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit V2 |
| Chromosome | 25p13 |
| NCBI Gene ID | [4729](https://www.ncbi.nlm.nih.gov/gene/4729) |
| OMIM | [161017](https://www.omim.org/entry/161017) |
| Ensembl ID | [ENSG00000170921](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170921) |
| UniProt ID | [P23378](https://www.uniprot.org/uniprot/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: