PIGP
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.
Involvement in disease
Developmental and epileptic encephalopathy 55
DEE55
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. DEE55 is an autosomal recessive condition.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Sequence Similarities
Belongs to the PIGP family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Membrane
- Multi-pass membrane protein
Alternative names
DCRC, DSCR5, DSCRC, NPD010, PIGP, Phosphatidylinositol N-acetylglucosaminyltransferase subunit P, Down syndrome critical region protein 5, Down syndrome critical region protein C, Phosphatidylinositol-glycan biosynthesis class P protein, PIG-P