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HSD3B2 is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene.
Gene Name: | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
Synonyms: | HSD3B2, 3 beta-HSD type II, 3-beta-HSD II, HSD3B, HSDB, HSDB3B, SDR11E2, Progesterone reductase |
Target Sequences: | NM_000198 NP_000189.1 P26439 |
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