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Entry
N00666                      Network                                

Name
ALG7 deficiency in N-glycan precursor biosynthesis
Definition
P-Dol -- ALG7*
  Expanded
C00110 -- 1798v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
1798  ALG7; dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Variant
1798v1  ALG7 deficiency
Metabolite
C00110  Dolichyl phosphate
Reference
  Authors
Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH
  Title
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
  Journal
Hum Mutat 22:144-50 (2003)
DOI:10.1002/humu.10239
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