PGAP3
Function
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI.
Involvement in disease
Hyperphosphatasia with impaired intellectual development syndrome 4
HPMRS4
An autosomal recessive neurologic disorder characterized by profound developmental delay, severe intellectual disability, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PGAP3 family.
Tissue Specificity
Ubiquitously expressed, with highest levels in thyroid and placenta.
Cellular localization
- Golgi apparatus membrane
- Multi-pass membrane protein
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Mainly localizes to Golgi apparatus.
Alternative names
CAB2, PERLD1, UNQ546/PRO1100, PGAP3, Post-GPI attachment to proteins factor 3, COS16 homolog, Gene coamplified with ERBB2 protein, PER1-like domain-containing protein 1, hCOS16