EC Number   |
General Information |
Reference |
|---|
    1.14.15.15 | malfunction |
CYP27A1 deficiency may upregulate the activity of 11beta-hydroxysteroid dehydrogenase 1, and downregulate the activity of 11beta-hydroxysteroid dehydrogenase 2. In a patient with cerebrotendinous xanthomatosis carrying a loss-of-function mutation in CYP27A1, the plasma concentrations of 27-hydroxycholesterol are dramatically reduced, with enhanced HSD11B1 and diminished HSD11B2 activities |
736561 |
| 1.14.15.15 | malfunction |
enzyme deficiency causes a disease characterized by progressive neurologic impairment. Impairment of CYP27 activity in astrocytes may alter critical features of the astrocytes, from the handling and delivery of cholesterol to neurons to the release of signaling molecules |
705935 |
| 1.14.15.15 | malfunction |
in Cyp27a1 knockout mice, the plasma concentrations of 27-hydroxycholesterol are undetectable. In the liver of the mutant mice, the increase in concentrations of active glucocorticoids is due to increased liver weight as a consequence of Cyp27a1 deficiency |
736561 |
| 1.14.15.15 | malfunction |
post-transcriptional silencing of the CYP27A1 gene in human trophoblast reduces the expression of CYP27A1 mRNA by 70%, reduces total bile acids by 2fold, and marinobufagenin levels by 67% when compared with nontreated cells or cells transfected with nontargeting siRNA |
735969 |
| 1.14.15.15 | malfunction |
post-transcriptional silencing of the CYP27A1 gene in rat adrenocortical cells reduces the expression of CYP27A1 mRNA by 70%, reduces total bile acids by 2fold, and marinobufagenin levels by 67% when compared with nontreated cells or cells transfected with nontargeting siRNA |
735969 |
| 1.14.15.15 | metabolism |
the enzyme initiates the biosynthesis of bile acids, pathway overview |
735969 |
| 1.14.15.15 | metabolism |
the enzyme is involved in cholesterol handling and metabolism |
705935 |
| 1.14.15.15 | more |
cerebrotendinous xanthomatosis, CTX, is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase CYP27A1 gene |
712202 |
| 1.14.15.15 | more |
mutations of gene CYP27A1 cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the central nervous system. This disorder is the cause of a clinical syndrome known as cerebrotendinous xanthomatosis, CTX, phenotype, overview |
713175 |
| 1.14.15.15 | more |
the ability of CYP125A4 to oxidize 7alpha-hydroxycholesterol is due, at least in part, to the presence of a smaller amino acid side chain facing C-7 of the sterol substrate than in CYP125A3 |
735690 |
