PIGV
Function
Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.
Involvement in disease
Hyperphosphatasia with impaired intellectual development syndrome 1
HPMRS1
A severe syndrome characterized by elevated serum alkaline phosphatase, severe intellectual disability, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Post-translational modifications
Not N-glycosylated.
Sequence Similarities
Belongs to the PIGV family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
GPI mannosyltransferase 2, GPI mannosyltransferase II, Phosphatidylinositol-glycan biosynthesis class V protein, GPI-MT-II, PIG-V, PIGV