Gene Symbol: PIGL
Description: phosphatidylinositol glycan anchor biosynthesis class L
Alias: CHIME, N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase, N-acetylglucosaminylphosphatidylinositol deacetylase, PIG-L, phosphatidylinositol glycan, class L, phosphatidylinositol-glycan biosynthesis class L protein
Fu L, Liu Y, Chen Y, Yuan Y, Wei W. Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report. BMC Pediatr. 2019;19:68 pubmed publisher
Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomal-recessive neurological disorder ..
Nakamura N, Inoue N, Watanabe R, Takahashi M, Takeda J, Stevens V, et al
. Expression cloning of PIG-L, a candidate N-acetylglucosaminyl-phosphatidylinositol deacetylase. J Biol Chem. 1997;272:15834-40 pubmed
..This orientation of PIG-L protein is consistent with the notion that the second step of GPI anchor biosynthesis occurs on the cytoplasmic side of the endoplasmic reticulum. ..
Watanabe R, Ohishi K, Maeda Y, Nakamura N, Kinoshita T. Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis. Biochem J. 1999;339 ( Pt 1):185-92 pubmed
..The disruption of the gene caused lethality in S. cerevisiae. These results indicate that GlcNAc-PI de-N-acetylase is conserved between mammals and yeasts and that the de-N-acetylation step is also indispensable in yeasts. ..
Kinoshita T, Inoue N. Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis. Curr Opin Chem Biol. 2000;4:632-8 pubmed
..These studies have revealed the common and also different characteristics of glycosylphosphatidyl-inositol biosynthesis enzymes in different organisms, leading to the development of species-specific inhibitors of the pathway. ..
Knight Johnson A, Schaefer G, Lee J, Hu Y, del Gaudio D. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017;173:1378-1382 pubmed publisher
b>CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported...
Ng B, Hackmann K, Jones M, Eroshkin A, He P, Wiliams R, et al
. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012;90:685-8 pubmed publisher
b>CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss...
Ahmeti K, Ajroud Driss S, Al Chalabi A, Andersen P, Armstrong J, Birve A, et al
. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging. 2013;34:357.e7-19 pubmed publisher
..Identifying the underlying pathways influencing susceptibility to and age at onset of ALS may provide insight into the pathogenic mechanisms and motivate new pharmacologic targets for this fatal neurodegenerative disease. ..
Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, et al
. Mutations in PIGL in a patient with Mabry syndrome. Am J Med Genet A. 2015;167A:777-85 pubmed publisher
..Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with CHIME syndrome, a rare autosomal recessive disorder characterized by colobomas, congenital heart defects, early onset ..
Pottekat A, Menon A. Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway. J Biol Chem. 2004;279:15743-51 pubmed
..We conclude that PIG-L, like a number of other ER membrane proteins, is retained in the ER through a multi-component localization signal rather than a discrete sorting motif. ..