HSD3B2( Human )

Entrez Gene 3284 Entrez Gene 3284
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Alias

HSD3B|HSDB|SDR11E2

The protein encoded by this gene 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. [provided by RefSeq, Oct 2009].

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