BOLA3, Official Symbol BOLA3provided by HGNC Official Full Name bolA family member 3provided by HGNC Primary source HGNC:HGNC:24415 See related Ensembl:ENSG00000163170 MIM:613183; AllianceGenome:HGNC:24415 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MMDS2 Summary This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in colon (RPKM 17.0), heart (RPKM 15.5) and 25 other tissues See more Orthologs mouse all