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

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).

CYP27A1，线粒体基质甾醇羟化酶，催化甾醇中间体侧链的27-羟化反应（Cali等，1991）。其中一种特定反应为5beta-胆固醇-3alpha, 7alpha, 12alpha-三醇（5bCHOL3a,7a,12a-triol）的27-羟化，生成5beta-胆固醇-3alpha, 7alpha, 12alpha, 27-四醇（5bCHOL3a,7a,12a, 27-tetrol）（Pikuleva等，1998）。CYP27A1的缺陷可导致 cerebrotendinous xanthomatosis（CTX；MIM:213700），一种罕见的甾醇储存疾病，其特征为进行性神经系统功能障碍、早发性动脉粥样硬化和白内障（Cali等，1991b）。