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Entry
N00678                      Network                                

Name
NUS1 deficiency in N-glycan precursor biosynthesis
Definition
F-PP -- NUS1*
  Expanded
C00448 -- 116150v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00900  Terpenoid backbone biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
116150  NUS1; NUS1, dehydrodolichyl diphosphate synthase subunit
Variant
116150v1  NUS1 deficiency
Metabolite
C00448  trans,trans-Farnesyl diphosphate
Reference
  Authors
Park EJ, Grabinska KA, Guan Z, Stranecky V, Hartmannova H, Hodanova K, Baresova V, Sovova J, Jozsef L, Ondruskova N, Hansikova H, Honzik T, Zeman J, Hulkova H, Wen R, Kmoch S, Sessa WC
  Title
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
  Journal
Cell Metab 20:448-57 (2014)
DOI:10.1016/j.cmet.2014.06.016
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