Protein Name phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Organism Homo sapiens
Gene ID 54872
Gene Symbol

PIGG

UniProt Q5H8A4 (PIGG_HUMAN), Q8NCI4 (Q8NCI4_HUMAN), E7EWV1 (E7EWV1_HUMAN), D6RFE8 (D6RFE8_HUMAN)
Relationships Total Number of functionally related compound(s) : 14
Total Number of Articles : 11
Description

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

Gene Summary

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
  • GPI ethanolamine phosphate transferase 2, catalytic subunit
  • GPI ethanolamine phosphate transferase 2
  • EMM blood group antigen
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Properties