Notably, the disruption of two subunits of GARP have been linked to neuronal dysfunction in mammals: (1) a homozygous recessive mutation in Vps54 in the wobbler mouse (Schmitt-John et al., 2005), and (2) heterozygous mutations in Vps53 in pontocerebellar hypoplasia type 2E in humans (Feinstein et al., 2014). This evidence concerns the gene VPS54 and pontocerebellar hypoplasia type 2E.