A gene is an instruction to assemble a protein, which is a structure essential for the formation and proper functioning of our body. FIG4 encodes for a protein that is essential in development of neurons, bone ossification, and skeletal maintenance. In FIG4-related disorders, a change in either one or both copies of FIG4 gene results in a protein that is not correctly formed or in a decreased production of the protein.
The diagnostic of FIG4-related disorders relies on genetic testing, which is usually performed on a blood sample.
FIG4