3-beta-HSD

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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Identifiers
SymbolHSD3B1
Alt. symbolsHSDB3, HSD3B
Entrez3283
HUGO5217
OMIM109715
RefSeqNM_000862
UniProtP14060
Other data
EC number1.1.1.145
LocusChr. 1 p13-p11
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Identifiers
SymbolHSD3B2
Entrez3284
HUGO5218
OMIM201810
RefSeqNM_000198
UniProtP26439
Other data
EC number1.1.1.145
LocusChr. 1 p13.1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Identifiers
SymbolHSD3B7
Entrez80270
HUGO18324
OMIM607764
RefSeqNM_025193
UniProtQ9H2F3
Other data
LocusChr. 16 p11.2-12

3-beta-HSD (or 3-beta-hydroxysteroid dehydrogenase-isomerase) is an enzyme which catalyses the synthesis of progesterone from pregnenolone, 17-hydroxyprogesterone from 17-hydroxypregnenolone, and androstenedione from dehydroepiandrosterone in the adrenal gland. It is the only enzyme in the adrenal steroidogenic pathway that is not a member of the Cytochrome P450 family.

Pathway

Corticosteroid biosynthetic pathway in rat

Clinical significance

It is associated with congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

References

External links


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