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Entry
N00659                      Network                                

Name
ALG9 deficiency in N-glycan precursor biosynthesis
Definition
G00006+Man-P-Dol -- ALG3 >> ALG9*
  Expanded
(G00006+G10617) -- 10195 >> 79796v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
10195  ALG3; ALG3, alpha-1,3- mannosyltransferase
79796  ALG9; ALG9, alpha-1,2-mannosyltransferase
Variant
79796v1  ALG9 deficiency
Metabolite
G00006   
G10617  Man-P-Dol
Reference
  Authors
Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N
  Title
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
  Journal
Am J Med Genet A 136:194-7 (2005)
DOI:10.1002/ajmg.a.30851
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