Gene Symbol | PIGP |
Entrez Gene ID | 51227 |
Full Name | phosphatidylinositol glycan anchor biosynthesis class P |
Synonyms | DCRC,DCRC-S,DSCR5,DSRC,EIEE55,PIG-P |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Epileptic encephalopathy, early infantile, 55, 617599 (3) |