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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. A pseudogene of this gene is present on chromosome 1. Alternative splicing results in multiple transcript variants encoding different isoforms.
|Gene Name:||iron-sulfur cluster assembly enzyme|
|Synonyms:||ISCU, ISU2, NifU-like protein, NIFUN, HML, NIFU, HnifU|
|Target Sequences:||AK022758 AAG37428.1 Q9H1K1|
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