disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber's hereditary optic neuropathy, and some forms of Parkinson's disease. Mutations on the X chromosome that affect this gene have included the G94C mutation, which has been associated with lactic acidosis, hypotonia, increased beta-hydroxybutyrate/acetoacetate ratio, and complex I deficiency. Interactions NDUFA1 has been shown to have 7 binary protein-protein interactions including 3 co-complex interactions. NDUFA1 appears to interact with GOLGB1, TRIM63, and SMURF2. References Further reading Human proteins