Two ISCU isoforms, ISCU1 (cytosolic, 15 kDa) and ISCU2 (mitochondrial, 18 kDa), were produced by alternative splicing. ISCU2 is considered the canonical isoform 1. Proteintech's ISCU antibody 14812-1-AP is raised against the full-length ISCU2 and is expected to detect 14, 15, and 18-19 kDa bands.
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.
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Protein Aliases: Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; iron-sulfur cluster scaffold homolog; IscU iron-sulfur cluster scaffold homolog; ISCU2; NifU-like N-terminal domain containing; NifU-like N-terminal domain-containing protein; NifU-like protein
Gene Aliases: 2310020H20Rik; AA407971; HML; hnifU; ISCU; ISU2; NIFU; NIFUN; RGD1309562