Aliases for HSD17B3 Gene
External Ids for HSD17B3 Gene
Previous GeneCards Identifiers for HSD17B3 Gene
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]
GeneCards Summary for HSD17B3 Gene
HSD17B3 (Hydroxysteroid (17-Beta) Dehydrogenase 3) is a Protein Coding gene. Diseases associated with HSD17B3 include 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency and pseudohermaphroditism, male, with gynecomastia. Among its related pathways are Metabolism and Prostate Cancer. GO annotations related to this gene include oxidoreductase activity and testosterone 17-beta-dehydrogenase (NADP+) activity. An important paralog of this gene is HSDL1.
UniProtKB/Swiss-Prot for HSD17B3 Gene
Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH