KEGG   NETWORK: N00756Help
Entry
N00756                      Network                                

Name
PIGL deficiency in GPI-anchor biosynthesis
Definition
PI+UDP-GlcNAc -- (PIGA+PIGC+PIGH+PIGP+PIGQ+PIGY+DPM2) >> PIGL*
  Expanded
(C01194+G10610) -- (5277+5279+5283+51227+9091+84992+8818) >> 9487v1
Class
nt06018 GPI-anchor biosynthesis
Type
Variant
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
H01487  CHIME 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
Variant
9487v1  PIGL deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH
  Title
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
  Journal
Am J Hum Genet 90:685-8 (2012)
DOI:10.1016/j.ajhg.2012.02.010
LinkDB All DBs

DBGET integrated database retrieval system