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Entry
N00672                      Network                                

Name
MPI deficiency in N-glycan precursor biosynthesis
Definition
Glc-6P -- GPI >> MPI*
  Expanded
C00668 -- 2821 >> 4351v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
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
Variant
4351v1  MPI deficiency
Metabolite
C00668  alpha-D-Glucose 6-phosphate
Reference
  Authors
Sharma V, Nayak J, DeRossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH
  Title
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
  Journal
FASEB J 28:1854-69 (2014)
DOI:10.1096/fj.13-245514
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