MMDS2 antibody, 1810056O20Rik antibody, bolA family member 3 antibody, bolA-like 3 (E. coli) antibody, BOLA3 antibody, Bola3 antibody
Background
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.