phosphatidylinositol glycan anchor biosynthesis class Q
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
From NCBI Gene:
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
Epileptic encephalopathy, early infantile, 77 (EIEE77): A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE77 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. Additional clinical features include coarse, 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). [MIM:618548]