Species Human Entrez 51227 | Human Mouse Ensembl ENSG00000185808 | |
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Aliases PIGP, DCRC, DCRC-S, DSCR5, DSRC, PIG-P, phosphatidylinositol glycan anchor biosynthesis class P External IDs MGI: 1860433 HomoloGene: 32444 GeneCards: PIGP | ||
Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the PIGP gene.
This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.