背景
This gene encodes a protein that plays an essential role in the production of iron-sulfur (FeS) 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).
