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FIGURE: 1 / 2
HSD3B1 and HSD3B2 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 and 2) are genes that encode enzymes crucial for the biosynthesis of all classes of hormonal steroids, including glucocorticoids, mineralocorticoids, androgens, and estrogens. These enzymes catalyze the conversion of delta-5-3-beta-hydroxysteroids into delta-4-3-ketosteroids, a key step in the steroidogenesis pathway. HSD3B1 is predominantly expressed in the placenta and peripheral tissues, while HSD3B2 is mainly found in the adrenal glands and gonads. Mutations or dysregulation in these genes can lead to various disorders, such as congenital adrenal hyperplasia, which affects steroid hormone production and can result in a range of clinical symptoms from salt-wasting crises to ambiguous genitalia. Given their fundamental role in steroid metabolism, HSD3B1 and HSD3B2 are important targets for understanding and treating endocrine disorders and diseases related to steroid hormone imbalance.
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Protein Aliases: 3 beta-HSD type II; 3 beta-hydroxy-5-ene steroid dehydrogenase; 3 beta-hydroxysteroid dehydrogenase 2; 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 1; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD adrenal and gonadal type; 3-beta-HSD I; 3-beta-HSD II; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; 3-beta-hydroxysteroid dehydrogenase/5-4-isomerase; delta 5-delta 4-isomerase type II; Delta-5-3-ketosteroid isomerase; Dihydrotestosterone oxidoreductase; hydroxysteroid dehydrogenase-2, delta<5>-3-beta; progesterone reductase; short chain dehydrogenase/reductase family 11E, member 1; short chain dehydrogenase/reductase family 11E, member 2; Steroid Delta-isomerase; Trophoblast antigen FDO161G; unnamed protein product
Gene Aliases: 3-beta-HSD I; 3BETAHSD; 3BH; D3Ertd383e; HSD3B; HSD3B1; HSD3B2; HSDB; HSDB3; HSDB3A; HSDB3B; SDR11E1; SDR11E2
UniProt ID: (Human) P14060, (Human) P26439, (Mouse) P24815, (Mouse) P26149
Entrez Gene ID: (Human) 3283, (Human) 3284, (Mouse) 15492, (Mouse) 15493
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