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 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency and Gynecomastia. Among its related pathways are Fatty Acyl-CoA Biosynthesis and superpathway of steroid hormone biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and testosterone 17-beta-dehydrogenase (NADP+) activity. An important paralog of this gene is HSD17B12.
UniProtKB/Swiss-Prot for HSD17B3 Gene
Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.