KEGG   NETWORK: N00714
Entry
N00714                      Network                                

Name
GBE1 deficiency in glycogen biosynthesis
Definition
Glc-1P -- UGP2 >> (GYG1/2+GYS1/2) >> GBE1*
  Expanded
C00103 -- 7360 >> ((2992,8908)+(2997,2998)) >> 2632v1
Class
nt06017 Glycogen metabolism
Type
Variant
Disease
H00069  Glycogen storage disease
H01942  Glycogen storage disease type IV
Gene
7360  UGP2; UDP-glucose pyrophosphorylase 2
2992  GYG1; glycogenin 1
8908  GYG2; glycogenin 2
2997  GYS1; glycogen synthase 1
2998  GYS2; glycogen synthase 2
2632  GBE1; 1,4-alpha-glucan branching enzyme 1
Variant
2632v1 (GBE1*)  GBE1 deficiency
Metabolite
C00103  D-Glucose 1-phosphate
Reference
  Authors
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C
  Title
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
  Journal
Neurology 63:1053-8 (2004)
DOI:10.1212/01.WNL.0000138429.11433.0D
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