Mutations in SHMT2 disrupt the conformation of the active site, thus inducing deleterious effects on SHMT2 enzymatic function which in turn lead to an alteration of amino acid and folate metabolism and mitochondrial homeostasis. Mitochondria are membrane-bound cell organelles that generate most of the chemical energy in the cells and its involvement in proliferating cells. This involvement in proliferating cells probably contributes to microcephaly and polymicrogyria.
SHMT2