Reactome | CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol

CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol

Stable Identifier

R-HSA-191999

Type

Reaction [transition]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

5beta-cholestan-3alpha, 7alpha, 12alpha-triol is hydroxylated to 5beta-cholestan-3alpha, 7alpha, 12alpha, 27-tetrol, 5beta-cholestan-3alpha, 7alpha, 12alpha-triol + NADPH + H+ + O2 => 5beta-cholestan-3alpha, 7alpha, 12alpha, 27-tetrol + NADP+ + H2O

ReviewStatus

5/5

Locations in the PathwayBrowser

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Metabolism (Homo sapiens)

- Metabolism of lipids (Homo sapiens)
  - Metabolism of steroids (Homo sapiens)
    - Bile acid and bile salt metabolism (Homo sapiens)
      - Synthesis of bile acids and bile salts (Homo sapiens)
        
        Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol (Homo sapiens)
        
        CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol (Homo sapiens)

General

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CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol

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CYP27A1, a mitochondrial matrix sterol hydroxylase, catalyses the 27-hydroxylation of side-chains of sterol intermediates (Cali et al. 1991). A specific reaction is the 27-hydroxylation of 5beta-cholestan-3alpha, 7alpha, 12alpha-triol (5bCHOL3a,7a,12a-triol) to form 5beta-cholestan-3alpha, 7alpha, 12alpha, 27-tetrol (5bCHOL3a,7a,12a, 27-tetrol) (Pikuleva et al. 1998). Defects in CYP27A1 can cause Cerebrotendinous xanthomatosis (CTX; MIM:213700), a rare sterol storage disorder characterised by progressive neurologic dysfunction, premature atherosclerosis and cataracts (Cali et al. 1991b).

Literature References

PubMed ID	Title	Journal	Year
9660774	Activities of recombinant human cytochrome P450c27 (CYP27) which produce intermediates of alternative bile acid biosynthetic pathways Pikuleva, IA, Bjorkhem, I, Waterman, MR, Babiker, A	J Biol Chem	1998
2019602	Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis Cali, JJ, Hsieh, CL, Russell, DW, Francke, U	J Biol Chem	1991
1708392	Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. Cali, JJ, Russell, DW	J Biol Chem	1991