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Entry
N00749                      Network                                

Name
PGAP1 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) >> (GPAA1+PIGK+PIGS+PIGT+PIGU) >> PGAP1*
  Expanded
(C01194+G10610) -- (5277+5279+5283+51227+9091+84992+8818) >> 9487 >> 284098 >> (93183+54965) >> 55650 >> 23556 >> 9488 >> (84720+5281) >> (8733+10026+94005+51604+128869) >> 80055v1
Class
nt06018 GPI-anchor biosynthesis
Type
Variant
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
H01485  Autosomal recessive mental retardation-42
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
8733  GPAA1; glycosylphosphatidylinositol anchor attachment 1
10026  PIGK; phosphatidylinositol glycan anchor biosynthesis class K
94005  PIGS; phosphatidylinositol glycan anchor biosynthesis class S
51604  PIGT; phosphatidylinositol glycan anchor biosynthesis class T
128869  PIGU; phosphatidylinositol glycan anchor biosynthesis class U
80055  PGAP1; post-GPI attachment to proteins 1
Variant
80055v1  PGAP1 deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB
  Title
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
  Journal
Eur J Hum Genet 23:1689-93 (2015)
DOI:10.1038/ejhg.2015.42
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