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Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria.
2310020H20Rik; AA407971; HML; hnifU; iron-sulfur cluster assembly enzyme; iron-sulfur cluster assembly enzyme ISCU, mitochondrial; iron-sulfur cluster scaffold homolog; Iscu; IscU iron-sulfur cluster scaffold homolog; IscU iron-sulfur cluster scaffold homolog (E. coli); ISCU2; ISU2; Nifu; NifU-like N-terminal domain containing; nifU-like N-terminal domain-containing protein; NifU-like protein; NIFUN; RGD1309562
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