Methylsterol monooxygenase 1

Definition:

Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol. Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs via enzymatic hydroxylation and spontaneous O-dehydroxypropylation.

References:

[1]. Alexander Mazein, et al. A comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway. Biochem Pharmacol. 2013 Jul 1;86(1):56-66. [Content Brief]

[2]. Matthew A Mitsche, et al. Flux analysis of cholesterol biosynthesis in vivo reveals multiple tissue and cell-type specific pathways. Elife. 2015 Jun 26;4:e07999. [Content Brief]

[3]. Kaori Yasuda, et al. Human hepatic metabolism of the anti-osteoporosis drug eldecalcitol involves sterol C4-methyl oxidase. Pharmacol Res Perspect. 2015 Mar;3(2):e00120. [Content Brief]

[4]. Giulia Frisso, et al. A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization. Mol Genet Metab. 2017 Aug;121(4):329-335. [Content Brief]

[5]. Miao He, et al. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest. 2011 Mar;121(3):976-84. [Content Brief]

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