FGF14 is the name of the gene that gives instructions for how to make a protein called Fibroblast Growth Factor 14 (FGF14). The role of this protein in the brain is not yet fully understood.  FGF14 is thought to be important for regulating the signals sent between cells in the brain and for brain growth and development.³ 

Pathogenic (disease-causing) variants in the FGF14 gene prevent the FGF14 protein from functioning properly, leading to the symptoms of SCA27B.