ISCU, Official Symbol ISCUprovided by HGNC Official Full Name iron-sulfur cluster assembly enzymeprovided by HGNC Primary source HGNC:HGNC:29882 See related Ensembl:ENSG00000136003 MIM:611911; AllianceGenome:HGNC:29882 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik Summary This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in adrenal (RPKM 47.9), heart (RPKM 43.2) and 25 other tissues See more Orthologs mouse all