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.
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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<div class="infobox-header">CHCHD3 Gene</div>
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<div class="infobox-label">Gene Symbol</div>
<div class="infobox-value">CHCHD3</div>
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<div class="infobox-label">Full Name</div>
<div class="infobox-value">Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3</div>
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<div class="infobox-label">Chromosomal Location</div>
<div class="infobox-value">13q14.12</div>
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<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>
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<div class="infobox-label">OMIM</div>
<div class="infobox-value">—</div>
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<div class="infobox-label">Ensembl ID</div>
<div class="infobox-value">ENSG00000165237</div>
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<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>
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<div class="infobox-label">Associated Diseases</div>
<div class="infobox-value">[Parkinson's Disease](/diseases/parkinsons-disease), [Mitochondrial Diseases](/diseases/mitochondrial-diseases)</div>
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<div class="infobox-label">Inheritance</div>
<div class="infobox-value">—</div>
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This page provides comprehensive information about the gene/protein/cell type, its function in the nervous system, and its role in neurodegenerative diseases.
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:
| 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.
CHCHD3 is expressed in:
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.
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