KEGG   VARIANT: 6307v1
Entry
6307v1                      Variant                                
Name
MSMO1 deficiency
Type
Loss of function
Gene
MSMO1  methylsterol monooxygenase 1 [KO:K07750]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607545
Network
nt06034  Cholesterol biosynthesis
Disease
H02132  Microcephaly syndrome
Reference
PMID:21285510
  Authors
He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J
  Title
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
  Journal
J Clin Invest 121:976-84 (2011)
DOI:10.1172/JCI42650
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