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Entry
N00751                      Network                                

Name
PIGO deficiency in GPI-anchor biosynthesis
Definition
PI+UDP-GlcNAc -- (PIGA+PIGC+PIGH+PIGP+PIGQ+PIGY+DPM2) >> PIGL >> PIGW >> (PIGM+PIGX) >> PIGV >> PIGN >> PIGB >> PIGO*
  Expanded
(C01194+G10610) -- (5277+5279+5283+51227+9091+84992+8818) >> 9487 >> 284098 >> (93183+54965) >> 55650 >> 23556 >> 9488 >> 84720v1
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
5277  PIGA; phosphatidylinositol glycan anchor biosynthesis class A
5279  PIGC; phosphatidylinositol glycan anchor biosynthesis class C
5283  PIGH; phosphatidylinositol glycan anchor biosynthesis class H
51227  PIGP; phosphatidylinositol glycan anchor biosynthesis class P
9091  PIGQ; phosphatidylinositol glycan anchor biosynthesis class Q
84992  PIGY; phosphatidylinositol glycan anchor biosynthesis class Y
8818  DPM2; dolichyl-phosphate mannosyltransferase subunit 2, regulatory
9487  PIGL; phosphatidylinositol glycan anchor biosynthesis class L
284098  PIGW; phosphatidylinositol glycan anchor biosynthesis class W
93183  PIGM; phosphatidylinositol glycan anchor biosynthesis class M
54965  PIGX; phosphatidylinositol glycan anchor biosynthesis class X
55650  PIGV; phosphatidylinositol glycan anchor biosynthesis class V
23556  PIGN; phosphatidylinositol glycan anchor biosynthesis class N
9488  PIGB; phosphatidylinositol glycan anchor biosynthesis class B
84720  PIGO; phosphatidylinositol glycan anchor biosynthesis class O
Variant
84720v1  PIGO deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D
  Title
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
  Journal
Am J Hum Genet 91:146-51 (2012)
DOI:10.1016/j.ajhg.2012.05.004
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