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Entry
N00757                      Network                                

Name
PIGA deficiency in GPI-anchor biosynthesis
Definition
PI+UDP-GlcNAc -- PIGA*
  Expanded
(C01194+G10610) -- 5277v1
Class
nt06018 GPI-anchor biosynthesis
Type
Variant
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
H01486  Multiple congenital anomalies-hypotonia-seizures syndrome
Gene
5277  PIGA; phosphatidylinositol glycan anchor biosynthesis class A
Variant
5277v1  PIGA deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG
  Title
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
  Journal
Am J Hum Genet 90:295-300 (2012)
DOI:10.1016/j.ajhg.2011.11.031
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