A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. KAT8 encodes for a protein that is thought to play a role in brain development. Generally, in KAT8-related disorders, a change in one copy of KAT8 gene results in a protein that is not correctly formed or in a decreased production of the protein.
The diagnostic of KAT8-related disorder relies on genetic testing, which is usually performed on a blood sample.
KAT8