To determine the impact of these mutations on Mn transport, we constructed an expression vector encoding hSLC39A8 with a C-terminal HA epitope tag and introduced four disease-associated mutations into hSLC39A8. Four mutations included two missense and two compound missense mutations of SLC39A8 that are found in CDG type II or Leigh syndrome patients. This evidence concerns the gene SLC39A8 and Leigh syndrome.