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 Pseudohermaphroditism. Among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Metabolism of steroid hormones. 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 Summary for HSD17B3 Gene
Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.