{"symbol":"IBA57","synonyms":["C1ORF69","SPG74"],"name":"IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)","description":"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]","ncbiEntrezGeneId":200205,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/200205","proteins":[{"symbol":"CAF17_HUMAN","href":"/api/1.0/protein/CAF17_HUMAN"}],"hgncRootFamilies":[]}