PIGS
Function
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
Involvement in disease
Glycosylphosphatidylinositol biosynthesis defect 18
GPIBD18
An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features.
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 PIGS family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
UNQ1873/PRO4316, PIGS, GPI transamidase component PIG-S, Phosphatidylinositol-glycan biosynthesis class S protein