CHCHD2

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]


DNA stub.svg
   This article is a gene stub. You can help WikiMD by expanding it!


Medicine-stub.png
This article is a stub related to medicine. You can help WikiMD by expanding it!
WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD