PIGG( Human )

Entrez Gene 54872 Entrez Gene 54872
phosphatidylinositol glycan anchor biosynthesis class G

Alias

GPI7|LAS21|MRT53|PRO4405|RLGS1930

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].

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