基因名称：HSD3B2 （hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2）
别名： HSDB,HSD3B,SDR11E2
基因ID：3284
Chromosome(GRCh37) ：1 Start: 119957554 End: 119965662 Strand:
信号通路：
靶向药：
化疗药：
简介：由该基因编码的蛋白质是双功能酶，催化δ（5）-En- 3-β-羟基甾体的氧化转化，以及酮甾体的氧化转化。它在所有种类激素类固醇的生物合成中起着关键作用。该基因主要在肾上腺和性腺中表达该基因突变与3-β-羟基类固醇脱氢酶Ⅱ型缺陷有关另外，已经发现该基因的剪接转录变体。[由RefSeq提供，2009年10月]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]
HSD3B2突变与药物：
