1 | GPIBD20, HPMR, HPMRS4, MCAHS, MCAHS2, PGAP3, PIGA, PIGN, PIGU, PIGV
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| Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
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| Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM.
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| Am J Hum Genet 105(2):395-402. doi: 10.1016/j.ajhg.2019.06.009. Epub 2019 Jul 25. 2019
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2 | HPMRS4, PGAP3
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| Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation.
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| Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM.
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| Am J Hum Genet 94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.
2014
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3 | PGAP3
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| Significance of glycosylphosphatidylinositol-anchored protein enrichment in lipid rafts for the control of autoimmunity.
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| Wang Y, Murakami Y, Yasui T, Wakana S, Kikutani H, Kinoshita T, Maeda Y.
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| J Biol Chem 288(35):25490-9. doi: 10.1074/jbc.M113.492611. Epub 2013 Jul 17.
2013
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4 | PGAP3
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| Enhanced response of T lymphocytes from Pgap3 knockout mouse: Insight into roles of fatty acid remodeling of GPI anchored proteins.
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| Murakami H, Wang Y, Hasuwa H, Maeda Y, Kinoshita T, Murakami Y.
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| Biochem Biophys Res Commun 417(4):1235-41. doi: 10.1016/j.bbrc.2011.12.116. Epub 2011 Dec 29.
2012
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5 | PGAP3
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| Enhanced response of T lymphocytes from Pgap3 knockout mouse: Insight into roles of fatty acid remodeling of GPI anchored proteins.
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| Murakami H, Wang Y, Hasuwa H, Maeda Y, Kinoshita T, Murakami Y.
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| Biochem Biophys Res Commun 417(4):1235-41. doi: 10.1016/j.bbrc.2011.12.116. Epub 2011 Dec 29.
2012
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6 | PGAP1, PGAP3
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| Fatty acid remodeling of GPI-anchored proteins is required for their raft association.
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| Maeda Y, Tashima Y, Houjou T, Fujita M, Yoko-o T, Jigami Y, Taguchi R, Kinoshita T.
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| Mol Biol Cell 18(4):1497-506. Epub 2007 Feb 21.
2007
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7 | PGAP3
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| PER1 is required for GPI-phospholipase A2 activity and involved in lipid remodeling of GPI-anchored proteins.
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| Fujita M, Umemura M, Yoko-o T, Jigami Y.
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| Mol Biol Cell 17(12):5253-64. Epub 2006 Oct 4.
2006
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8 | ERBB2, GRB7, MIEN1, PGAP3, PNMT, PPP2R1B, STARD3, TCAP
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| MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein domain.
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| Katoh M, Katoh M.
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| Int J Oncol 22(6):1369-74. 2003
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9 | PGAP3
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| Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.
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| Nezu M, Nishigaki M, Ishizuka T, Kuwahara Y, Tanabe C, Aoyagi K, Sakamoto H, Saito Y, Yoshida T, Sasaki H, Terada M.
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| Jpn J Cancer Res 93(11):1183-6. 2002
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