A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. JARID2 encodes for a protein that is thought to play a role in brain development. Generally, in JARID2-related disorders, a change in one copy of JARID2 gene results in a protein that is not correctly formed or in a decreased production of the protein.
The diagnostic of JARID2-related disorder relies on genetic testing, which is usually performed on a blood sample.
JARID2