A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. In POLR3GL-related disorder, a change in both copies of POLR3GL gene results either in a protein that is not correctly formed or in a decreased production of the protein.
The diagnostic of POLR3GL-related disorder relies on genetic testing, which is usually performed on a blood sample.
POLR3GL