Gene Symbol | HSD17B3 |
Entrez Gene ID | 3293 |
Full Name | hydroxysteroid 17-beta dehydrogenase 3 |
Synonyms | EDH17B3,SDR12C2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Pseudohermaphroditism, male, with gynecomastia, 264300 (3) |