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Entry
N00677                      Network                                

Name
SRD5A3 deficiency in N-glycan precursor biosynthesis
Definition
F-PP -- (DHDDS+NUS1) >> SRD5A3*
  Expanded
C00448 -- (79947+116150) >> 79644v1
Class
nt06015 N-Glycan precursor 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
Variant
79644v1  SRD5A3 deficiency
Metabolite
C00448  trans,trans-Farnesyl diphosphate
Reference
  Authors
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blumel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG
  Title
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
  Journal
Cell 142:203-17 (2010)
DOI:10.1016/j.cell.2010.06.001
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