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Entry
N00758                      Network                                

Name
PIGY deficiency in GPI-anchor biosynthesis
Definition
PI+UDP-GlcNAc -- PIGY*
  Expanded
(C01194+G10610) -- 84992v1
Class
nt06018 GPI-anchor biosynthesis
Type
Variant
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
H01488  Hyperphosphatasia with mental retardation syndrome
Gene
84992  PIGY; phosphatidylinositol glycan anchor biosynthesis class Y
Variant
84992v1  PIGY deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF
  Title
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
  Journal
Hum Mol Genet 24:6146-59 (2015)
DOI:10.1093/hmg/ddv331
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