LMPD Database

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LMP001992

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class L
Protein EntryPIGL_HUMAN
UniProt IDQ9Y2B2
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2B2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2B2-2; Sequence=VSP_056886; Note=No experimental confirmation available;
Catalytic Activity6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + acetate.
DiseaseColoboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM
FunctionInvolved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol.
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SimilarityBelongs to the PIGL family.
Subcellular LocationEndoplasmic reticulum membrane {ECO