COX5A

COX5A is a gene that encodes a subunit of the cytochrome c oxidase (COX) complex, also known as Complex IV, which is the final enzyme in the mitochondrial electron transport chain. This gene is located on chromosome 15 and is expressed in all tissues, with the highest levels found in the heart and skeletal muscle.

Function

The COX5A gene encodes the COX Va subunit of the COX complex. This subunit is one of the three subunits that form the catalytic core of the complex. The COX complex is responsible for the transfer of electrons from cytochrome c to oxygen, which results in the formation of water. This process is crucial for the generation of ATP, the main source of energy in cells.

Clinical significance

Mutations in the COX5A gene have been associated with a variety of diseases, including Leigh syndrome, a severe neurological disorder that typically arises in the first year of life and is characterized by progressive loss of mental and movement abilities. Other diseases associated with mutations in this gene include cardiomyopathy, a disease of the heart muscle that can lead to heart failure, and mitochondrial complex IV deficiency, a disorder that can affect multiple systems in the body.

Research

Research into the COX5A gene and its associated proteins is ongoing. Understanding the function and structure of this gene and its protein product may lead to new treatments for diseases associated with mitochondrial dysfunction.

File:COX5A gene location on human chromosome 15.png

Location of the COX5A gene on human chromosome 15.

See also

• Cytochrome c oxidase
• Mitochondrial diseases
• Leigh syndrome
• Cardiomyopathy