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. VPS13D encodes for a protein that plays a role in muscle development. In VPS13D-related disorders, a change in both copy of VPS13D gene results in a protein that is not correctly formed or in a decreased production of the protein.

The diagnostic of VPS13D-related disorder relies on genetic testing, which is usually performed on a blood sample.