KEGG   VARIANT: 116150v1
Entry
116150v1                      Variant                              
Name
NUS1 deficiency
Type
Loss of function
Gene
NUS1  NUS1 dehydrodolichyl diphosphate synthase subunit [KO:K19177]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610463
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:25066056
  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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