Target intelligence / Profile preview

Sterol 27-hydroxylase (CYP27A1)

Target
CYP27A1
Molecular classification
Enzyme, Cytochrome P450 family
01

Overview

Sterol 27-hydroxylase (CYP27A1) is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol at the C-27 position, a key step in bile acid biosynthesis. Mutations in CYP27A1 cause cerebrotendinous xanthomatosis (CTX), a lipid storage disorder with severe neurological consequences. The enzyme plays a vital role in cholesterol homeostasis, reverse cholesterol transport, and regulation of cholesterol synthesis. Its expression is highest in the liver but also significant in peripheral tissues, macrophages, and glial cells.

Other names
Cytochrome P450 family 27 subfamily A member 1CP27CTXCYP27[2]
02

Mechanism of action

Chenodeoxycholic acid treatment restores feedback inhibition on alternative metabolic pathways responsible for harmful metabolite buildup.

03

Biological functions

Cholesterol homeostasisBile acid biosynthesisReverse cholesterol transportRegulation of cholesterol synthesis
04

Disease associations

Cerebrotendinous xanthomatosisAtherosclerosisNeurological impairmentLipid storage disorder
05

Safety considerations

Potential for drug interactions due to cytochrome P450 activityNeed for early diagnosis and treatment to prevent severe neurological consequences in CTX
06

Interacting drugs

Chenodeoxycholic acid
07

Biomarkers

Cholestanol levels (elevated in CTX)27-hydroxycholesterol levels

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