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3 beta-hydroxysteroid dehydrogenase (3beta-HSD), also known as HSD3B1 or HSDB3, is a bifunctional enzyme that plays a crucial role in the synthesis of all classes of hormonal steroids. Two human 3beta-HSD proteins, designated type I (3beta-HSD) and type II (3beta-HSD2), are expressed by different genes and function in different areas of the body. Localized to the membrane of the endoplasmic reticulum (ER) and expressed in skin and placenta, 3beta-HSD is the type I protein that catalyzes the oxidative conversion of delta5-ene-3-beta-hydroxy steroid, as well as the conversion of various ketosteroids. Defects in the gene encoding 3beta-HSD are associated with classic salt wasting, genital ambiguity, hypogonadism, insulin-resistant polycystic ovary syndrome (PCOS) and an increased susceptibility to prostate cancer. Additionally, congenital deficiency of 3beta-HSD activity results in a severe depletion of steroid formation which can be lethal in young children.
3 beta HSD II; 3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase 2; 3 beta-hydroxysteroid dehydrogenase 6; 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 4; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type IV; 3beta-HSD; 3-beta-HSD adrenal and gonadal type; 3-beta-HSD II; 3-beta-HSD IV; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; delta 5-delta 4-isomerase type II; Delta-5-3-ketosteroid isomerase; HSD3B; Hsd3b1; Hsd3b2; Hsd3b6; HSD-3beta; HSDB; HSDB3B; Hydroxy-delta-5-steroid dehydrogenase 3 beta- and steroid delta-isomerase; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6; hydroxysteroid dehydrogenase-2, delta<5>-3-beta; hydroxysteroid dehydrogenase-6 delta<5>-3-beta; progesterone reductase; SDR11E2; short chain dehydrogenase/reductase family 11E, member 2; Steroid Delta-isomerase
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