KEGG   VARIANT: 79644v1
Entry
79644v1                      Variant                               
Name
SRD5A3 deficiency
Type
Loss of function
Gene
SRD5A3  steroid 5 alpha-reductase 3 [KO:K12345]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611715
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
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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