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Entry
N00669                      Network                                

Name
DPM2 deficiency in N-glycan precursor biosynthesis
Definition
Glc-6P -- GPI >> MPI >> PMM1/2 >> GMPP >> DPM2*
  Expanded
C00668 -- 2821 >> 4351 >> (5372,5373) >> (29925,29926) >> 8818v1
Class
nt06015 N-Glycan 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
8818  DPM2; dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Variant
8818v1  DPM2 deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
  Authors
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ
  Title
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
  Journal
Ann Neurol 72:550-8 (2012)
DOI:10.1002/ana.23632
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