Cytochrome P450 27A1 (CYP27A1)

CP27; CTX; CYP27; Sterol 27-Hydroxylase,Cerebrotendinous Xanthomatosis; Vitamin D(3) 25-hydroxylase; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase

SPN	T246
HGNC	2605
MGI	88594
PubMed	17697869
RGD	727915
UniProt	Q02318
Wiki	CYP27A1

CYP27A1 is a member of the cytochrome P450 superfamily of enzymes. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease.

CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways. It is the initiating enzyme in the acidic pathway to bile acids, yielding oxysterols by introducing a hydroxyl group to the carbon at the 27 position in cholesterol.

Reference

"Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis."
J. Biol. Chem. 266:7774-7778(1991) [PubMed] [Europe PMC] [Abstract]

"Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions."
Proc. Natl. Acad. Sci. U.S.A. 90:8668-8672(1993) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin."
J. Clin. Invest. 91:2488-2496(1993) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis."
J. Biol. Chem. 266:7779-7783(1991) [PubMed] [Europe PMC] [Abstract]

"Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)."
J. Lipid Res. 35:1031-1039(1994) [PubMed] [Europe PMC] [Abstract]

"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. 38:870-879(1997) [PubMed] [Europe PMC] [Abstract]

"A novel arg362ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity."
Biochemistry 37:15050-15056(1998) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis."
Clin. Genet. 61:185-191(2002) [PubMed] [Europe PMC] [Abstract]