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Human Polyclonal PGAP1 Primary Antibody for ELISA, WB - ABIN566418
Liu, Ho, Tan, Kamran, Gasser: Ras activation induces expression of Raet1 family NK receptor ligands. in Journal of immunology (Baltimore, Md. : 1950) 2012
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 abnormalities and indicate that not only the cell surface expression levels of GPI-APs but also the fine structure of GPI-anchors is important for the normal neurological development
PGAP1 encoded an ER-associated, 922-amino acid membrane protein bearing a lipase 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
, GPI inositol-deacylase
, Post GPI Attachment to Proteins 1
, post-GPI attachment to proteins factor 1
, ADP-ribosyl cyclase 2
, bone marrow stromal antigen 1
, cADPr hydrolase 2
, cyclic ADP-ribose hydrolase 2