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Entry
N00656                      Network                                

Name
DDOST deficiency in N-glycan precursor biosynthesis
Definition
G00007+Glc-P-Dol -- ALG6 >> ALG8 >> ALG10 >> DDOST*
  Expanded
(G00007+C01246) -- 29929 >> 79053 >> (84920,144245) >> 1650v1
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
1650  DDOST; dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Variant
1650v1  DDOST deficiency
Metabolite
G00007   
C01246  Dolichyl beta-D-glucosyl phosphate
Reference
  Authors
Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR
  Title
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
  Journal
Am J Hum Genet 90:363-8 (2012)
DOI:10.1016/j.ajhg.2011.12.024
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