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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Glycosylphosphatidylinositol (GPI) biosynthesis defects

Glycosylphosphatidylinositol (GPI) biosynthesis defects
Gene Gene locus MIM# Function Localization of defect Disease Inheritance Initial molecular characterization (PMID)
PI glycan anchor biosynthesis class A (PIGA) 311770 GlcNAc-transferase complex, catalytic subunit (transfers GlcNAc to PI) ER (cytosolic side) MCAHS2 (GPIBD4, EIEE20) XL 22305531
PI glycan anchor biosynthesis class C (PIGC) 601730 GlcNAc-transferase complex ER (cytosolic side) PIGC-CDG AR 27694521
PI glycan anchor biosynthesis class Q (PIGQ) 605754 GlcNAc-transferase complex ER (cytosolic side) PIGQ-CDG AR 24463883
PI glycan anchor biosynthesis class P (PIGP) 605938 GlcNAc-transferase complex ER (cytosolic side) EIEE55 (GPIBD14) AR 28334793
PI glycan anchor biosynthesis class Y (PIGY) 610662 GlcNAc-transferase complex ER (cytosolic side) HPMRS6 (GPIBD12) AR 26293662
PI glycan anchor biosynthesis class H (PIGH) 600154 GlcNAc-transferase complex ER (cytosolic side) PIGH-CDG AR 29573052, 29603516
PI glycan anchor biosynthesis class L (PIGL) 605947 GlcNAc-PI de-N-acetylase (GlcNAc-PI to GlcN-PI) ER (cytosolic side) CHIME syndrome (GPIBD5) AR 22444671
PI glycan anchor biosynthesis class W (PIGW) 610275 Inositol acyltransferase (transfers fatty acid to GlcN-PI) ER (luminal side) HPMRS5 (GPIBD11) AR 24367057
PI glycan anchor biosynthesis class M (PIGM) 610273 Man-transferase 1 (transfers mannose to GlcN-aPI) ER (luminal side) GPIBD1 AR 16767100
PI glycan anchor biosynthesis class V (PIGV) 610274 Man-transferase 2 (transfers mannose to ManGlcN-aPI) ER (luminal side) HPMRS1 (GPIBD2) AR 20802478
PI glycan anchor biosynthesis class N (PIGN) 606097 EtNP-transferase 1 (transfers EtNP to ManManGlcN-aPI) ER (luminal side) MCAHS1 (GPIBD3) AR 21493957
PI glycan anchor biosynthesis class B (PIGB) 604122 Man-transferase 3 (transfers mannose to Man(etNP)ManGlcN-aPI) ER (luminal side) PIGB-CDG AR 31256876
PI glycan anchor biosynthesis class O (PIGO) 614730 EtNP-transferase 3 (transfers EtNP to ManMan(EtNP)ManGlcN-aPI) ER (luminal side) HPMRS2 (GPIBD6) AR 22683086
PI glycan anchor biosynthesis class G (PIGG) 616918 EtNP-transferase 2 (transfers EtNP to EtNPManMan(EtNP) ManGlcN-aPI) ER (luminal side) MRT53 (GPIBD13) AR 26996948
PI glycan anchor biosynthesis class T (PIGT) 610272 GPI transamidase (transfers protein to GPI anchor) ER (luminal side) MCAHS3 (GPIBD7) AR 23636107
PI glycan anchor biosynthesis class S (PIGS) 610271 GPI transamidase (transfers protein to GPI anchor) ER (luminal side) PIGS-CDG AR 30269814
PI glycan anchor biosynthesis class U (PIGU) 608528 GPI transamidase (transfers protein to GPI anchor) ER (luminal side) PIGU-CDG AR 31353022
PI glycan anchor biosynthesis class K (PIGK) 605087 GPI transamidase (transfers protein to GPI anchor) ER (luminal side) PIGK-CDG AR 32220290
Post-GPI attachment to proteins inositol deacylase 1 (PGAP1) 611655 Inositol deacylase (removes fatty acid) ER (luminal side) MRT42 (GPIBD9) AR 24784135
Post-GPI attachment to proteins phospholipase 3 (PGAP3) 611801 Phospholipase A2 (removes unsaturated fatty acid at sn-2 [the middle position of the glycerol backbone]) Golgi HPMRS4 (GPIBD10) AR 24439110
Post-GPI attachment to proteins 2 (PGAP2) 615187 Reacylates sn-2 with stearic acid Golgi HPMRS3 (GPIBD8) AR 23561846, 23561847
PI: phosphatidylinositol; GlcNAc: N-acetylglucosamine; ER: endoplasmic reticulum; MCAHS: multiple congenital anomalies-hypotonia-seizures syndrome; GPIBD: glycosylphosphatidylinositol biosynthesis defect; EIEE: early infantile epileptic encephalopathy; XL: X linked; AR: autosomal recessive; HPMRS: hyperphosphatasia with mental retardation syndrome; CHIME: coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomalies syndrome; EtNP: ethanolamine phosphate; MRT: intellectual disability.
Adapted from: Ferreira CR, Altassan R, Marques-Da-Silva D, et al. Recognizable phenotypes in CDG. J Inherit Metab Dis 2018; 41:541.
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