LMPD Database

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LMP003538

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class N
Protein EntryPIGN_HUMAN
UniProt IDO95427
SpeciesHuman
Comments
Comment typeDescription
DiseaseMultiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM
FunctionEthanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation. {ECO
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SimilarityBelongs to the PIGG/PIGN/PIGO family. PIGN subfamily.
Subcellular LocationEndoplasmic reticulum membrane {ECO