PIGU
Function
Component of the GPI transamidase complex, necessary for transfer of GPI to proteins (PubMed:34576938). May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI.
Involvement in disease
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
NEDBSS
An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism.
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 PIGU family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
CDC91L1, PSEC0205, UNQ3055/PRO9875, PIGU, Phosphatidylinositol glycan anchor biosynthesis class U protein, Cell division cycle protein 91-like 1, GPI transamidase component PIG-U, Protein CDC91-like 1