InterPro domain: IPR039529

PGAP1 (Bst1 in yeast) functions as a GPI inositol-deacylase; this deacylation is important for the efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi body [ 1 ]. Mutations of the PGAP1 gene cause mental retardation, autosomal recessive 42 (MRT42) [ 2 ].

1. Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p. J. Biol. Chem. 279, 14256-63
2. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet. 10, e1004320