人 HSD3B2 (NM_001166120) cDNA克隆

Accession: NM_001166120
基因名称: HSD3B2
基因别名: HSDB; HSD3B; SDR11E2
基因描述: Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1119 (查看编码区序列)
翻译后氨基酸长度: 372 (查看氨基酸序列)
Transcript Variant: This variant (2) contains an alternate 5' non-coding exon, hence differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
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G110373 人 HSD3B2 (NM_001166120) cDNA克隆 pDONR223 2ug质粒 点击询价

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]