Entrez gene ID | | 51227 |
Official gene symbol | | PIGP |
Full name | | phosphatidylinositol glycan anchor biosynthesis, class P |
Aliases | | ,DCRC,DCRC-S,DSCR5,DSRC, |
Gene 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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] |
Location | | Chromosome: 21 Locus: 21q22.2 |
Gene position | | 38445458 - 38437664 Map Viewer |
Gene orientation | | minus |
Gene size | | 7795 bp |
Gene sequence |
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OMIM ID | | 605938 |
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