Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (PIGQ)

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (PIGQ) is an enzyme that participates in the first step of glycosylphosphatidylinositol (GPI) anchor biosynthesis, specifically catalyzing the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). The GPI anchor is a glycolipid that serves to attach a variety of proteins to the cell surface, an essential modification for many blood and other cell types. Defects in PIGQ impair GPI anchor biosynthesis, which can cause a range of developmental and neurological syndromes, notably severe early-onset epilepsy and may contribute to the pathogenesis of neurodegenerative diseases and psychiatric disorders[1][2][5]. Notes: - There are currently no known direct interacting drugs or biomarker uses specific to PIGQ, nor defined mechanisms of action for modulation by therapeutics, but the enzyme is implicated as a genetic cause in certain diseases[2]. - Molecular and clinical data support its classification as a therapeutic target due to the severe syndromic presentations resulting from its loss of function.

Other names

GPI1HGPI1c407A10.1Phosphatidylinositol glycan anchor biosynthesis class QN-acetylglucosaminyl transferase component GPI1Phosphatidylinositol-glycan biosynthesis class Q proteinDEE77EIEE77GPIBD19MCAHS4