Several of these genes are involved in human diseases, including JUP (Cardiomyopathy), MSN (Immunodeficiency 50), SNCA (Parkinson’s disease, Lewy Body Disease), MAPT (Frontotemporal Dementia), NEFL (Charcot-Marie-Tooth) SYN1 (Epilepsy, X-linked), TUBB2A (cortical dysplasia), TUBB4A (torsion dystonia, hypomyelinating leukodystrophy), ATP1A3 (dystonia, epileptic encephalopathy, hemiplegia of childhood, CAPOS syndrome), and GPX1 (hemolytic anemia). Here, JUP is linked to combined immunodeficiency due to moesin deficiency.