Target intelligence / Profile preview

3β-Hydroxysteroid Dehydrogenase Type II (HSD3B2)

Target
HSD3B2
Molecular classification
Enzyme, Steroid dehydrogenase, Oxidoreductase
01

Overview

3β-hydroxysteroid dehydrogenase type II (HSD3B2) is a crucial enzyme in human steroid hormone biosynthesis. It catalyzes the conversion of Δ5-3β-hydroxysteroids to Δ4-3-ketosteroids, an essential step for producing all classes of active steroid hormones, including glucocorticoids, mineralocorticoids, androgens, estrogens, and progestins. Mutations in HSD3B2 cause congenital adrenal hyperplasia due to impaired synthesis of cortisol, aldosterone, and sex steroids.

02

Mechanism of action

Inhibition of 3β-hydroxysteroid dehydrogenase activity

03

Biological functions

Steroid hormone biosynthesisAndrogen synthesisEstrogen synthesisGlucocorticoid synthesisMineralocorticoid synthesisProgestin synthesis
04

Disease associations

Congenital adrenal hyperplasiaSteroid hormone deficiencySalt-wasting crisisAmbiguous genitaliaUndervirilization
05

Safety considerations

Potential for off-target effects on other steroidogenic enzymesRisk of adrenal insufficiency if enzyme activity is completely blocked
06

Biomarkers

Ratio of Δ5-steroids to Δ4-steroids (e.g., DHEA)HSD3B2 gene mutations

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