Sterol 26-hydroxylase, mitochondrial
Definition:
References:
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[1]. Karl Bodin, et al. Metabolism of 4 beta -hydroxycholesterol in humans. J Biol Chem. 2002 Aug 30;277(35):31534-40. [Content Brief]
[2]. Raku Shinkyo, et al. Metabolism of vitamin D by human microsomal CYP2R1. Biochem Biophys Res Commun. 2004 Nov 5;324(1):451-7. [Content Brief]
[3]. I A Pikuleva, et al. Putative helix F contributes to regioselectivity of hydroxylation in mitochondrial cytochrome P450 27A1. Biochemistry. 2001 Jun 26;40(25):7621-9. [Content Brief]
[4]. J J Cali, et al. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991 Apr 25;266(12):7779-83. [Content Brief]
[5]. K S Kim, et al. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). J Lipid Res. 1994 Jun;35(6):1031-9. [Content Brief]
[6]. Gun-Young Heo, et al. Conversion of 7-ketocholesterol to oxysterol metabolites by recombinant CYP27A1 and retinal pigment epithelial cells. J Lipid Res. 2011 Jun;52(6):1117-1127. [Content Brief]
[7]. W Chen, et al. A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. Biochemistry. 1998 Oct 27;37(43):15050-6. [Content Brief]
[8]. I A Pikuleva, et al. Activities of recombinant human cytochrome P450c27 (CYP27) which produce intermediates of alternative bile acid biosynthetic pathways. J Biol Chem. 1998 Jul 17;273(29):18153-60. [Content Brief]
[9]. J J Cali, et al. Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem. 1991 Apr 25;266(12):7774-8. [Content Brief]
[10]. Natalia Mast, et al. Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum. J Biol Chem. 2017 Mar 24;292(12):4913-4924. [Content Brief]
[11]. W Chen, et al. Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. J Lipid Res. 1997 May;38(5):870-9. [Content Brief]
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