COX6A2
Description
The COX6A2 gene provides instructions for making a subunit of cytochrome c oxidase, a crucial enzyme in the electron transport chain. This chain is responsible for generating the majority of the cell‘s energy in the form of ATP. COX6A2 plays a vital role in this process by accepting electrons from cytochrome c and transferring them to molecular oxygen, ultimately producing water. Mutations in the COX6A2 gene can lead to a deficiency in cytochrome c oxidase activity, causing a range of health issues.
Associated Diseases
- Leigh Syndrome
- Mitochondrial complex IV deficiency
- Mitochondrial Myopathy
- Encephalomyopathy
- Cardiomyopathy
- Hepatopathy
- Nonsyndromic Hearing Loss
Did you know?
Mutations in the COX6A2 gene can be inherited from either parent, or they can occur spontaneously. These mutations can affect different tissues and organs, leading to a wide spectrum of clinical presentations.
