PIGF
Function
Involved in GPI-anchor biosynthesis (PubMed:33386993). It acts through the transfer of ethanolamine phosphate to the third mannose of GPI.
Involvement in disease
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
OORS
An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, seizures or tonic posturing, dysmorphic facial features, and hypoplastic terminal phalanges and nails.
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 PIGF family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
Phosphatidylinositol-glycan biosynthesis class F protein, PIG-F, GPI11 homolog, PIGF