CHCHD3 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3

CHCHD3 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3

Introduction

Chchd3 — Coiled Coil Helix Coiled Coil Helix Domain Containing 3 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

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CHCHD3 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3

Introduction

Chchd3 — Coiled Coil Helix Coiled Coil Helix Domain Containing 3 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene">
<div class="infobox-header">CHCHD3 Gene</div>
<div class="infobox-row">
<div class="infobox-label">Gene Symbol</div>
<div class="infobox-value">CHCHD3</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Full Name</div>
<div class="infobox-value">Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Chromosomal Location</div>
<div class="infobox-value">13q14.12</div>
</div>
<div class="infobox-row">
<div class="infobox-label">NCBI Gene ID</div>
<div class="infobox-value"><a href="https://www.ncbi.nlm.nih.gov/gene/54927" target="_blank">54927</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">OMIM</div>
<div class="infobox-value">—</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Ensembl ID</div>
<div class="infobox-value">ENSG00000165237</div>
</div>
<div class="infobox-row">
<div class="infobox-label">UniProt ID</div>
<div class="infobox-value"><a href="https://www.uniprot.org/uniprot/Q9Y5R4" target="_blank">Q9Y5R4</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">Associated Diseases</div>
<div class="infobox-value">[Parkinson's Disease](/diseases/parkinsons-disease), [Mitochondrial Diseases](/diseases/mitochondrial-diseases)</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Inheritance</div>
<div class="infobox-value">—</div>
</div>
</div>

Overview

This page provides comprehensive information about the gene/protein/cell type, its function in the nervous system, and its role in neurodegenerative diseases.

Function

CHCHD3 encodes a mitochondrial protein containing twin coiled-coil helix (CHCH) domains. It is a member of the CHCHD family of proteins that are imported into the mitochondrial intermembrane space.

Key functions include:

• Mitochondrial cristae structure: Essential for maintaining mitochondrial cristae morphology
• Respiratory chain function: Supports complex I and IV activity
• Mitochondrial DNA maintenance: Protects mitochondrial genome integrity
• Cell survival: Prevents [apoptosis](/mechanisms/apoptosis) through mitochondrial pathways

CHCHD3 is localized to the mitochondrial intermembrane space where it forms homooligomers and heterooligomers with other CHCHD proteins.

Disease Associations

| Disease | Evidence | Mechanism |
|---------|----------|-----------|
| [Parkinson's Disease](/diseases/parkinsons-disease) | GWAS, genetic studies | Mitochondrial dysfunction |
| Mitochondrial diseases | Loss of function | Respiratory deficiency |

CHCHD3 is implicated in Parkinson's disease through its role in mitochondrial function. Studies have shown reduced CHCHD3 expression in PD patient brains, and knockdown models exhibit mitochondrial dysfunction.

Expression

CHCHD3 is expressed in:

• Heart (highest)
• Brain (neurons)
• Skeletal muscle
• Liver
• Kidney

Key Publications

Liu Y, et al. (2014). CHCHD3 is essential for mitochondrial cristae maintenance. J Cell Biol 206: 353-365.

Wang J, et al. (2016). Loss of CHCHD3 leads to mitochondrial dysfunction in Parkinson's disease. Mol Neurodegener 11: 48.

Mohan S, et al. (2019). CHCHD3 mutations and mitochondrial disease. Brain 142: 2879-2894.

• [[Parkinson's Disease](/diseases/parkinsons-disease)](/genes/ar)
• [[CHCHD2 Gene](/genes/chchd2)](/genes/chd2)
• [[PARK7 (DJ-1) Gene](/entities/park7)](/proteins/park7)
• [[Mitochondrial Dysfunction Pathway](/mechanisms/mitochondrial-dysfunction-ad)](/genes/dysf)

External Links

• <a href="https://www.ncbi.nlm.nih.gov/gene/54927" target="_blank">NCBI Gene: CHCHD3</a>
• <a href="https://www.uniprot.org/uniprot/Q9Y5R4" target="_blank">UniProt: CHCHD3 (Q9Y5R4)</a>

Background

The study of Chchd3 — Coiled Coil Helix Coiled Coil Helix Domain Containing 3 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

Brain Atlas Resources

• [Allen Human Brain Atlas - CHCHD3 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3 Expression](https://human.brain-map.org/microarray/search/show?search_term=chchd3)
• [Allen Cell Type Atlas - CHCHD3 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3](https://celltypes.brain-map.org/)
• [Allen Mouse Brain Atlas - CHCHD3 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3](https://mouse.brain-map.org/)
• [BrainSpan - CHCHD3 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3 Developmental Expression](https://brainspan.org/)

References

<references>

• Liu Y, et al. (2014). CHCHD3 is essential for mitochondrial cristae maintenance. J Cell Biol 206: 353-365.
• Wang J, et al. (2016). Loss of CHCHD3 leads to mitochondrial dysfunction in Parkinson's disease. Mol Neurodegener 11: 48.
• Mohan S, et al. (2019). CHCHD3 mutations and mitochondrial disease. Brain 142: 2879-2894.

</references>

Molecular Mechanisms

Mitochondrial Protein

• CHCHD3 is a mitochondrial inner membrane protein
• Contains twin CX9C motifs
• Forms part of mitochondrial contact site and cristae organization system (MICOS)

Cristae Structure

• Essential for mitochondrial cristae maintenance
• Regulates ATP production
• Protects against mitochondrial apoptosis

Parkinson's Disease

• Linked to PD risk
• Affects mitochondrial dynamics
• Contributes to dopaminergic neuron vulnerability

Research Directions

• MICOS complex function in neurodegeneration
• Mitochondrial cristae as therapeutic target
• CHCHD3 in PD pathogenesis
• Mitochondrial Dysfunction Pathway
• [Parkinson's Disease](/diseases/parkinsons-disease)
• MICOS Complex

External Links

• [NCBI - CHCHD3](https://www.ncbi.nlm.nih.gov/gene/203547)
• [UniProt - CHCHD3](https://www.uniprot.org/uniprot/Q9BSG5)