Literature summary for 1.14.18.9 extracted from

He, M.; Kratz, L.E.; Michel, J.J.; Vallejo, A.N.; Ferris, L.; Kelley, R.I.; Hoover, J.J.; Jukic, D.; Gibson, K.M.; Wolfe, L.A.; Ramachandran, D.; Zwick, M.E.; Vockley, J.
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay (2011), J. Clin. Invest., 121, 976-984.

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Protein Variants

Protein Variants	Comment	Organism
H173Q	the mutation is associated with sterol-C4-methyl oxidase deficiency	Homo sapiens
Y244C	the mutation is associated with sterol-C4-methyl oxidase deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q15800	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
SMO	-	Homo sapiens
sterol-C4-methyl oxidase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	mutations in methyl sterol oxidase cause psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. Enzyme deficiency also substantially alters immunocyte phenotype and in vitro function	Homo sapiens

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Release 2023.1 (January 2023)