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Entry
N00670                      Network                                

Name
DPM3 deficiency in N-glycan precursor biosynthesis
Definition
Glc-6P -- GPI >> MPI >> PMM1/2 >> GMPP >> DPM3*
  Expanded
C00668 -- 2821 >> 4351 >> (5372,5373) >> (29925,29926) >> 54344v1
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
54344  DPM3; dolichyl-phosphate mannosyltransferase subunit 3
Variant
54344v1  DPM3 deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
  Authors
Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA
  Title
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
  Journal
Am J Hum Genet 85:76-86 (2009)
DOI:10.1016/j.ajhg.2009.06.006
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