PIGQ

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). [provided by RefSeq]

Full Name

phosphatidylinositol glycan anchor biosynthesis, class Q

Function

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

Biological Process

Carbohydrate metabolic processManual Assertion Based On ExperimentTAS:ProtInc
GPI anchor biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Membrane

Involvement in disease

Multiple congenital anomalies-hypotonia-seizures syndrome 4 (MCAHS4):
An autosomal recessive syndrome characterized by onset of refractory seizures in the first months of life. Additional clinical features include severe global developmental delay, dysmorphic facial features, and skeletal, renal and ophthalmic anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI).