ec1.1.1.64
Alternative name(s):
17-beta-hydroxysteroid dehydrogenase type 3
Short name=17-beta-HSD 3
Testicular 17-beta-hydroxysteroid dehydrogenase
Function
Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.
Catalytic activity
Testosterone + NADP+ = androst-4-ene-3,17-dione + NADPH.
Pathway
Hormone biosynthesis; testosterone biosynthesis.
Tissue specificity
Testis.
Involvement in disease
Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place.
Note: The disease is caused by mutations affecting the gene represented in this entry.
