ADCK3
Description
The ADCK3 gene provides instructions for making an enzyme called adenosine kinase 3, which plays a crucial role in mitochondrial function. Mitochondria, often referred to as the "powerhouses of the cell", are responsible for generating energy through cellular respiration. ADCK3 is involved in the synthesis of coenzyme Q10 (CoQ10), a vital component of the electron transport chain within mitochondria. CoQ10 acts as an electron carrier, facilitating the transfer of electrons and the production of ATP, the cell‘s primary energy currency. Variations or mutations in the ADCK3 gene can disrupt the normal function of this enzyme, leading to mitochondrial dysfunction and a spectrum of associated diseases.
Associated Diseases
- Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
- Leigh Syndrome
- Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
- Neuropathies
- Cardiomyopathies
Did you know?
The ADCK3 gene is also involved in the biosynthesis of other important cellular components, including heme, which is essential for red blood cell function.
