{"symbol":"PIGP","synonyms":["DSCR5","DCRC","PIG-P","DSRC","EIEE55","DCRC-S"],"name":"phosphatidylinositol glycan anchor biosynthesis, class P","description":"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. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]","ncbiEntrezGeneId":51227,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/51227","proteins":[{"symbol":"PIGP_HUMAN","href":"/api/1.0/protein/PIGP_HUMAN"}],"hgncRootFamilies":[{"name":"Phosphatidylinositol glycan anchor biosynthesis (PIG)","href":"/api/1.0/gene_family/Phosphatidylinositol+glycan+anchor+biosynthesis+%28PIG%29"}]}