PIGG

Full Name

Phosphatidylinositol glycan anchor biosynthesis class G

Keywords

GPI7; LAS21; MRT53; PRO4405; RLGS1930; Phosphatidylinositol glycan anchor biosynthesis class G

Background

This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]