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). The gene discussed is ATP1A3; the disease is combined immunodeficiency due to moesin deficiency.