ATPV1B2 encodes a component of the vacuolar ATPase (V-ATPase, also known as H+-ATPase), a multi subunit enzyme that mediates acidification of eukaryotic intracellular organelles. Nowadays, all the literatures on DDOD syndrome reported one same mutation,c.1516 C>T (p. Arg506X) in ATP6V1B2. This mutation affects the normal acidification in lysosomes and leads to DDOD syndrome.
ATP6V1B2