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Entry
N00661                      Network                                

Name
ALG3 deficiency in N-glycan precursor biosynthesis
Definition
G00006+Man-P-Dol -- ALG3*
  Expanded
(G00006+G10617) -- 10195v1
Class
nt06015 N-Glycan precursor biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
10195  ALG3; ALG3, alpha-1,3- mannosyltransferase
Variant
10195v1  ALG3 deficiency
Metabolite
G00006   
G10617  Man-P-Dol
Reference
  Authors
Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T
  Title
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
  Journal
Hum Mutat 23:477-86 (2004)
DOI:10.1002/humu.20026
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