IBA57, Official Symbol IBA57provided by HGNC Official Full Name iron-sulfur cluster assembly factor IBA57provided by HGNC Primary source HGNC:HGNC:27302 See related Ensembl:ENSG00000181873 MIM:615316; AllianceGenome:HGNC:27302 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 MMDS3; SPG74; C1orf69 Summary The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in kidney (RPKM 1.9), bone marrow (RPKM 1.8) and 25 other tissues See more Orthologs mouse all