Entrez gene ID | | 3284 |
Official gene symbol | | HSD3B2 |
Full name | | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
Aliases | | ,HSD3B,HSDB,SDR11E2, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p13.1 |
Gene position | | 119957554 - 119965662 Map Viewer |
Gene orientation | | plus |
Gene size | | 8109 bp |
Gene sequence |
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OMIM ID | | 201810 |
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