NDUFV1 Gene

NDUFV1 Gene

Introduction

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.

Overview

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. [@ndufv2021]

NDUFV1 Gene

Introduction

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.

Overview

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. [@ndufv2021]

<div class="infobox infobox-gene"> [@mitochondrial2021]
<table> [@ndufv2020]
<tr><th colspan="2" style="background:#f0f0f0;">NADH:Ubiquinone Oxidoreductase Core Subunit V1</th></tr> [@coq2022]
<tr><td><strong>Gene Symbol</strong></td><td>NDUFV1</td></tr> [@ndufv2021a]
<tr><td><strong>Full Name</strong></td><td>NADH:Ubiquinone Oxidoreductase Core Subunit V1</td></tr> [@mitochondrial2020]
<tr><td><strong>Chromosome</strong></td><td>11q13.2</td></tr> [@complex2019]
<tr><td><strong>NCBI Gene ID</strong></td><td>[4719](https://www.ncbi.nlm.nih.gov/gene/4719)</td></tr>
<tr><td><strong>OMIM</strong></td><td>[161015](https://www.omim.org/entry/161015)</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>[ENSG00000167792](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167792)</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[P22415](https://www.uniprot.org/uniprot/P22415)</td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">8 edges</a></td>
</tr>
</table>
</div>

Molecular Mechanism

NDUFV1 is essential for complex I function:

Electron Transfer

Complex I Structure

NDUFV1 is part of the peripheral arm:

• N-module (NADH oxidation): NDUFV1, NDUFV2, NDUFV3
• Q-module (ubiquinone reduction): Multiple core subunits
• HP module (connecting arm)

Function in Neurodegeneration

Parkinson's Disease

NDUFV1 dysfunction is linked to PD:

• Mitochondrial complex I deficiency: Well-documented in PD substantia nigra
• Oxidative stress: Impaired electron transfer increases ROS
• PINK1/PARKIN pathway: Mitophagy defects compound the problem
• [α-Synuclein](/proteins/alpha-synuclein) interaction: Mitochondrial dysfunction promotes aggregation

Alzheimer's Disease

NDUFV1 contributes to AD:

• Mitochondrial dysfunction: Early event in AD pathogenesis
• Energy deficit: Reduced ATP production
• Oxidative stress: Increased [reactive oxygen species](/entities/reactive-oxygen-species)
• Calcium dysregulation: Impaired mitochondrial calcium handling

Leigh Syndrome

NDUFV1 mutations cause:

• Severe encephalopathy: Progressive loss of motor function
• Basal ganglia lesions: Characteristic MRI findings
• Metabolic crisis: Triggered by stress or illness

Other Neurodegenerative Diseases

NDUFV1 dysfunction is implicated in:

• ALS: Mitochondrial abnormalities in motor [neurons](/entities/neurons)
• Huntington's disease: Complex I deficiency
• Friedreich's ataxia: Secondary complex I dysfunction

Therapeutic Targeting

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 Associations

| 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 |

Expression

NDUFV1 is expressed in brain tissue:

• High expression in cerebral [cortex](/brain-regions/cortex)
• High expression in cerebellum
• Expressed in neurons and glia

See Also

• [NDUFV2 Gene](/genes/ndufv2) - Related complex I subunit
• [Complex I](/entities/electron-transport-chain) - Mitochondrial complex I
• [Mitochondrial Dysfunction](/mechanisms/mitochondrial-dysfunction)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Alzheimer's Disease](/diseases/alzheimers-disease)

External Links

• [NCBI Gene: ndufv1](https://www.ncbi.nlm.nih.gov/gene/)
• [PubMed: ndufv1](https://pubmed.ncbi.nlm.nih.gov/?term=ndufv1+neurodegeneration)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving NDUFV1 Gene discovered through SciDEX knowledge graph analysis: