Entrez 23479 | Ensembl ENSG00000136003 | |
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Aliases ISCU, 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU, iron-sulfur cluster assembly enzyme External IDs MGI: 1913633 HomoloGene: 6991 GeneCards: ISCU | ||
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene.
A deficiency of ISCU is associated with a mitochondrial myopathy with lifelong exercise intolerance where only minor exertion causes tachycardia, shortness of breath, muscle weakness and myalgia.
References
ISCU Wikipedia(Text) CC BY-SA