COX17
Description
The COX17 (cytochrome c oxidase copper chaperone COX17) is a protein-coding gene located on chromosome 3.
The COX17 gene encodes a protein called cytochrome c oxidase copper chaperone. This protein is involved in the assembly of cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain. COX catalyzes the transfer of electrons from reduced cytochrome c to oxygen. The COX complex is made up of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. While COX17 is not a structural subunit, it is thought to play a role in delivering copper to mitochondria for incorporation into the COX apoenzyme. The COX17 gene shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. A pseudogene COX17P has been found on chromosome 13. COX17 is no longer considered a candidate gene for COX deficiency.
COX17, a copper metallochaperone, plays a crucial role in the assembly of complex IV (CIV) of the mitochondrial respiratory chain, also known as cytochrome c oxidase. It binds two copper ions and delivers them to SCO1, another metallochaperone, which then transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2).
COX17 is also known as -.
Associated Diseases
- cancer
- hyperinsulinemic hypoglycemia, familial, 4
- Parkinson disease
- Wilson disease
- very long chain acyl-CoA dehydrogenase deficiency
- osteoarthritis
