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Entry
N00664                      Network                                

Name
ALG1 deficiency in N-glycan precursor biosynthesis
Definition
P-Dol -- ALG7 >> (ALG13+ALG14) >> ALG1*
  Expanded
C00110 -- 1798 >> (79868+199857) >> 56052v1
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
79868  ALG13; UDP-N-acetylglucosaminyltransferase subunit
199857  ALG14; UDP-N-acetylglucosaminyltransferase subunit
56052  ALG1; chitobiosyldiphosphodolichol beta-mannosyltransferase
Variant
56052v1  ALG1 deficiency
Metabolite
C00110  Dolichyl phosphate
Reference
  Authors
Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T
  Title
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
  Journal
Am J Hum Genet 74:545-51 (2004)
DOI:10.1086/382493
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