CHCHD2

CHCHD2 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2) is a protein that in humans is encoded by the CHCHD2 gene. This protein is known to play a crucial role in the regulation of mitochondrial function and apoptosis.

Function

The CHCHD2 protein is a mitochondrial intermembrane space protein that is involved in the maintenance of oxidative phosphorylation (OXPHOS) system and mitochondrial morphology. It is also known to regulate the release of cytochrome c during apoptosis, thereby playing a role in the induction of cell death.

Clinical Significance

Mutations in the CHCHD2 gene have been associated with various neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. Studies have shown that these mutations can lead to mitochondrial dysfunction, which is a common pathological feature of these neurodegenerative diseases.

Research

Research into the CHCHD2 gene and its associated protein is ongoing, with scientists aiming to better understand its functions and the mechanisms by which its mutations contribute to disease. This research could potentially lead to the development of new therapeutic strategies for neurodegenerative diseases.

See Also

• Mitochondrial disease
• Neurodegeneration
• Protein (gene)

References

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