COX5A
Description
The COX5A gene provides instructions for making a subunit of cytochrome c oxidase, a vital enzyme in the electron transport chain within mitochondria. This chain is responsible for generating ATP, the primary energy source for cells. COX5A plays a critical role in converting oxygen into water, a key step in cellular respiration. Mutations in the COX5A gene can disrupt mitochondrial function, leading to various diseases.
Associated Diseases
- Leigh syndrome
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Kearns-Sayre syndrome
- Myoclonic epilepsy with ragged-red fibers (MERRF)
- NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa)
- Leigh-like syndrome
Did you know?
Mutations in the COX5A gene are often associated with mitochondrial DNA depletion syndrome, a condition characterized by a reduction in the amount of mitochondrial DNA in cells.
