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.
Developmental and epileptic encephalopathy 55
DEE55
A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. DEE55 is an autosomal recessive condition.
None
The disease is caused by variants affecting the gene represented in this entry.
Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Belongs to the PIGP family.
Ubiquitous.
Proteins
18089Da
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