Aliases for ISCU Gene
External Ids for ISCU Gene
Previous HGNC Symbols for ISCU Gene
Previous GeneCards Identifiers for ISCU Gene
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. [provided by RefSeq, Jul 2014]
GeneCards Summary for ISCU Gene
ISCU (Iron-Sulfur Cluster Assembly Enzyme) is a Protein Coding gene. Diseases associated with ISCU include myopathy with deficiency of iron-sulfur cluster assembly enzyme and hereditary myopathy with lactic acidosis due to iscu deficiency. Among its related pathways are Metabolism and Mitochondrial iron-sulfur cluster biogenesis. GO annotations related to this gene include iron ion binding and iron-sulfur cluster binding.
UniProtKB/Swiss-Prot for ISCU Gene
Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron.