Iron sulfur cluster assembly enzyme ISCU mitochondrial
Iron sulfur cluster scaffold homolog
Iron sulfur cluster scaffold homolog (E. coli)
Iron-sulfur cluster assembly enzyme ISCU
IscU iron sulfur cluster scaffold homolog
NifU like N terminal domain containing
NifU like N terminal domain containing protein
NifU like protein
NifU-like N-terminal domain-containing protein
Nitrogen fixation cluster like
Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron.
Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta.
Involvement in disease
Defects in ISCU are the cause of myopathy with exercise intolerance Swedish type (MEIS) [MIM:255125]; also known as myopathy with deficiency of succinate dehydrogenase and aconitase or myoglobinuria due to abnormal glycolysis or hereditary myopathy with lactic acidosis (HML). This autosomal recessive metabolic disease is characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism.