Molecular characteristics

A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. GINS3 encodes for a protein that plays a role in growth. In GINS3-related disorders, a change in one or both copy of GINS3 gene results in a protein that is not correctly formed or in a decreased production of the protein.

The diagnostic of GINS3-related disorder relies on genetic testing, which is usually performed on a blood sample.