KEGG   VARIANT: 6309v1
Entry
6309v1                      Variant                                
Name
SC5D deficiency
Type
Loss of function
Gene
SC5D  sterol-C5-desaturase [KO:K00227]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602286
Network
nt06034  Cholesterol biosynthesis
Disease
H01281  Lathosterolosis
Reference
PMID:12189593
  Authors
Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G
  Title
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
  Journal
Am J Hum Genet 71:952-8 (2002)
DOI:10.1086/342668
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