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Entry
N00676                      Network                                

Name
DOLK deficiency in N-glycan precursor biosynthesis
Definition
F-PP -- (DHDDS+NUS1) >> SRD5A3 >> DOLK*
  Expanded
C00448 -- (79947+116150) >> 79644 >> 22845v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
hsa00900  Terpenoid backbone biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
79947  DHDDS; dehydrodolichyl diphosphate synthase subunit
116150  NUS1; NUS1, dehydrodolichyl diphosphate synthase subunit
79644  SRD5A3; steroid 5 alpha-reductase 3
22845  DOLK; dolichol kinase
Variant
22845v1  DOLK deficiency
Metabolite
C00448  trans,trans-Farnesyl diphosphate
Reference
  Authors
Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T
  Title
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
  Journal
Am J Hum Genet 80:433-40 (2007)
DOI:10.1086/512130
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