PIGP explained

Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme subunit that in humans is encoded by the PIGP gene.^{[1] [2] [3]}

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.

Further reading

• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Choi DK, Suzuki Y, Yoshimura S, etal . Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5) . Mamm. Genome . 12 . 5 . 347–51 . 2001 . 11331941 . 10.1007/s003350010283 . 41171148 .
• Watanabe R, Murakami Y, Marmor MD, etal . Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2 . EMBO J. . 19 . 16 . 4402–11 . 2000 . 10944123 . 10.1093/emboj/19.16.4402 . 302040 .
• Togashi T, Choi DK, Taylor TD, etal . A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2 . DNA Res. . 7 . 3 . 207–12 . 2001 . 10907851 . 10.1093/dnares/7.3.207 . free .
• Hattori M, Fujiyama A, Taylor TD, etal . The DNA sequence of human chromosome 21 . Nature . 405 . 6784 . 311–9 . 2000 . 10830953 . 10.1038/35012518 . 2000Natur.405..311H . free .

Notes and References

1. Shibuya K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Shimizu N . Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2 . Biochem Biophys Res Commun . 271 . 3 . 693–8 . Jun 2000 . 10814524 . 10.1006/bbrc.2000.2685 .
2. Ferrando-Miguel R, Cheon MS, Lubec G . Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5) . Amino Acids . 26 . 3 . 255–61 . Jun 2004 . 15221505 . 10.1007/s00726-004-0065-9 . 42311306 .
3. Web site: Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P.