This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.
PIGP; phosphatidylinositol glycan anchor biosynthesis, class P; Down syndrome critical region gene 5 , DSCR5, phosphatidylinositol glycan, class P; phosphatidylinositol N-acetylglucosaminyltransferase subunit P; DCRC; DSRC; phosphatidylinositol n acetylglucosaminyltranferase subunit; DCRC S; Down syndrome critical region gene 5; Down syndrome critical region protein 5; Down syndrome critical region protein C; DSCR 5; DSCR5; DSCRC; Phosphatidylinositol glycan anchor biosynthesis class P; Phosphatidylinositol glycan biosynthesis class P; Phosphatidylinositol glycan biosynthesis class P protein; Phosphatidylinositol glycan class P; Phosphatidylinositol N acetylglucosaminyltransferase subunit P; PIG-P; OTTHUMP00000109075; OTTHUMP00000109076; OTTHUMP00000109077; OTTHUMP00000109078; OTTHUMP00000109079; phosphatidylinositol glycan, class P; Down syndrome cri; DCRC-S; phosphatidylinositol-glycan biosynthesis class P protein; phosphatidylinositol-n-acetylglucosaminyltranferase subunit; zgc:73366; wu:fc66d08