PIGS

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq]

phosphatidylinositol glycan anchor biosynthesis, class S

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.

Attachment of GPI anchor to proteinManual Assertion Based On ExperimentIBA:GO_Central

Endoplasmic reticulum membrane

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.

Cytoplasmic: 2-18
Helical: 19-39
Lumenal: 40-520
Helical: 521-541
Cytoplasmic: 542-555