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