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Study confirms homozygous loss-of function mutations in PGAP1 as a cause of severe encephalopathy.
PGAP1 mutation and a proven functional loss of PGAP1 were found in a patient with cerebral visual impairment and intellectual diasability.
results add PGAP1 to the growing list of GPI (show GNPDA1 Proteins) abnormalities and indicate that not only the cell surface expression levels of GPI (show GNPDA1 Proteins)-APs (show SH2B2 Proteins) but also the fine structure of GPI (show GNPDA1 Proteins)-anchors is important for the normal neurological development
PGAP1 encoded an ER-associated, 922-amino acid membrane protein bearing a lipase (show LIPG Proteins) consensus motif.
PGAP1-deficient spermatozoa showed weak attachment to the zona pellucida and a severely diminished rate of fertilization
PGAP1 catalyzes the inositol deacylation of glycosylphosphatidylinositol (GPI) at an early step in GPI biosynthesis. Inositol deacylation is essential for the generation of mature GPI capable of attachment to proteins (Tanaka et al., 2004
, hypothetical protein
, GPI inositol-deacylase
, post-GPI attachment to proteins factor 1
, Post GPI Attachment to Proteins 1