Molecular Characteristics

The FBXO11 gene is responsible for making the FBXO11 protein. This protein is involved in a cellular process called ubiquitination which targets proteins for degradation. The FBXO11 gene is active throughout the body but particularly in the brain. The FBXO11-protein contains several functional domains. Disease-causing mutations often occur within one of these domains and affect protein structure, rendering dsysfunction of the protein.

Most disease-causing mutations in FBXO11 occur ‘de novo,’ which means that the mutation originated newly in the child as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself. The inheritance mode is ‘autosomal dominant,’ this means that the theoretical chance to pass on the mutation is 50% for the affected individual.