GPAA1
Function
Component of the GPI transamidase complex, necessary for transfer of GPI to proteins (PubMed:34576938). Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.
Involvement in disease
Glycosylphosphatidylinositol biosynthesis defect 15
GPIBD15
An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Tissue Specificity
Ubiquitously expressed in fetal and adult tissues. Expressed at higher levels in fetal tissues than adult tissues.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
GAA1, GPAA1, Glycosylphosphatidylinositol anchor attachment 1 protein, GPI anchor attachment protein 1, GAA1 protein homolog, hGAA1