Iron Sulfur Cluster Scaffold Homolog (ISCU)

ISCU 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.ISCU1 encodes a deduced 142-amino acid protein with 13 unique N-terminal residues, and ISCU2 encodes a deduced 167-amino acid protein with 38 unique N-terminal residues, including a mitochondrial targeting signal. ISCS (NFS1) is a cysteine desulfurase thought to sequester inorganic sulfur for Fe-S cluster assembly. the mitochondrial and cytosolic ISCU isoforms associated with the mitochondrial and cytosolic ISCS isoforms in their respective fractions, suggesting that separate Fe-S cluster assembly complexes exist in the cytosolic and mitochondrial compartments.