HSD3B2, Official Symbol HSD3B2provided by HGNC Official Full Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2provided by HGNC Primary source HGNC:HGNC:5218 See related Ensembl:ENSG00000203859 MIM:613890; AllianceGenome:HGNC:5218 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSDB; HSD3B; SDR11E2 Summary 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] Expression Restricted expression toward adrenal (RPKM 1042.2) See more Orthologs all