Conversely, point mutations in human APC1 (SCaMC1/SLC25A24) leading to an Arg217His or Arg217Cys substitution have been linked to severe forms of mitochondrial disease related to bone development (Gorlin–Chaudhry–Moss syndrome and/or Fontaine syndrome) 29, 30. The gene discussed is SLC25A24; the disease is mitochondrial disease.