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Entry
N00655                      Network                                

Name
STT3B deficiency in N-glycan precursor biosynthesis
Definition
G00007+Glc-P-Dol -- ALG6 >> ALG8 >> ALG10 >> STT3B*
  Expanded
(G00007+C01246) -- 29929 >> 79053 >> (84920,144245) >> 201595v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
29929  ALG6; ALG6, alpha-1,3-glucosyltransferase
79053  ALG8; ALG8, alpha-1,3-glucosyltransferase
84920  ALG10; ALG10, alpha-1,2-glucosyltransferase
144245  ALG10B; ALG10B, alpha-1,2-glucosyltransferase
201595  STT3B; STT3B, catalytic subunit of the oligosaccharyltransferase complex
Variant
201595v1  STT3B deficiency
Metabolite
G00007   
C01246  Dolichyl beta-D-glucosyl phosphate
Reference
  Authors
Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH
  Title
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
  Journal
Hum Mol Genet 22:4638-45 (2013)
DOI:10.1093/hmg/ddt312
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