A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. ATP6V0C encodes for a protein that is thought to play a role in brain functioning. In ATP6V0C-related disorders, a change in one copy of ATP6V0C gene results in a protein that is not correctly formed or in a decreased production of the protein.
The diagnostic of ATP6V0C-related disorder relies on genetic testing, which is usually performed on a blood sample.
ATP6V0C