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Entry
N00750                      Network                                

Name
PIGT deficiency in GPI-anchor biosynthesis
Definition
PI+UDP-GlcNAc -- (PIGA+PIGC+PIGH+PIGP+PIGQ+PIGY+DPM2) >> PIGL >> PIGW >> (PIGM+PIGX) >> PIGV >> PIGN >> PIGB >> (PIGO+PIGF) >> PIGT*
  Expanded
(C01194+G10610) -- (5277+5279+5283+51227+9091+84992+8818) >> 9487 >> 284098 >> (93183+54965) >> 55650 >> 23556 >> 9488 >> (84720+5281) >> 51604v1
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
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
5281  PIGF; phosphatidylinositol glycan anchor biosynthesis class F
51604  PIGT; phosphatidylinositol glycan anchor biosynthesis class T
Variant
51604v1  PIGT deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA
  Title
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
  Journal
Mol Genet Metab 115:128-140 (2015)
DOI:10.1016/j.ymgme.2015.04.007
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