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

Stable Identifier
R-HSA-191999
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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
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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).

Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
steroid hydroxylase activity of CYP27A1 [mitochondrial matrix]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created
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