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Entry
N00754                      Network                                

Name
PIGM deficiency in GPI-anchor biosynthesis
Definition
PI+UDP-GlcNAc -- (PIGA+PIGC+PIGH+PIGP+PIGQ+PIGY+DPM2) >> PIGL >> PIGW >> PIGM*
  Expanded
(C01194+G10610) -- (5277+5279+5283+51227+9091+84992+8818) >> 9487 >> 284098 >> 93183v1
Class
nt06018 GPI-anchor biosynthesis
Type
Variant
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
H01127  PIGM-congenital disorder of glycosylation
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
Variant
93183v1  PIGM deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A
  Title
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
  Journal
Nat Med 12:846-51 (2006)
DOI:10.1038/nm1410
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