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Entry
N00668                      Network                                

Name
DPM1 deficiency in N-glycan precursor biosynthesis
Definition
Glc-6P -- GPI >> MPI >> PMM1/2 >> GMPP >> DPM1*
  Expanded
C00668 -- 2821 >> 4351 >> (5372,5373) >> (29925,29926) >> 8813v1
Class
nt06015 N-Glycan precursor biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
hsa00520  Amino sugar and nucleotide sugar metabolism
Disease
H00118  Congenital disorders of glycosylation type I
Gene
2821  GPI; glucose-6-phosphate isomerase
4351  MPI; mannose phosphate isomerase
5372  PMM1; phosphomannomutase 1
5373  PMM2; phosphomannomutase 2
29925  GMPPB; GDP-mannose pyrophosphorylase B
29926  GMPPA; GDP-mannose pyrophosphorylase A
8813  DPM1; dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Variant
8813v1  DPM1 deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
  Authors
Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH
  Title
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
  Journal
J Clin Invest 105:191-8 (2000)
DOI:10.1172/JCI7302
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