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PIGG

Official Full Name
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Organism
Homo sapiens
GeneID
54872
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]
Synonyms
EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405; RLGS1930;

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