CCDC63
Cytochrome c Oxidase Deficiency (CCDC63)
Description
Cytochrome c oxidase deficiency (CCDC63) is a rare genetic disorder characterized by a deficiency in the cytochrome c oxidase (COX) enzyme, a crucial component of the electron transport chain in mitochondria. Mitochondria are energy-producing organelles present in all eukaryotic cells, and COX is essential for generating adenosine triphosphate (ATP), the primary energy currency for cellular functions.
CCDC63 results from mutations in the CCDC63 gene, which encodes a protein involved in COX assembly and function. Mutations in this gene disrupt COX activity, leading to impaired cellular respiration and energy production.
Associated Diseases
CCDC63 is associated with a wide range of clinical manifestations, including:
- Leigh syndrome: A severe neurodegenerative disorder characterized by developmental delay, seizures, and hypotonia.
- Mitochondrial encephalopathy: A progressive disorder affecting the brain, leading to intellectual disability, developmental delay, and movement abnormalities.
- Liver failure: COX deficiency in the liver can result in elevated liver enzymes, liver cirrhosis, and failure.
- Cardiomyopathy: Damage to heart muscle can lead to heart failure and arrhythmias.
- Neuropathy: COX deficiency in nerve cells can cause muscle weakness, sensory disturbances, and impaired coordination.
Did you Know ?
CCDC63 is an extremely rare disorder, affecting less than 1 in 1 million individuals worldwide.
