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This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia.
Gene Name: | hydroxysteroid (17-beta) dehydrogenase 3 |
Synonyms: | HSD17B3, 17-beta-HSD 3, 17-beta-HSD3, EDH17B3, SDR12C2 |
Target Sequences: | NM_000197 NP_000188.1 P37058 |
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