Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.
Pseudovaginal perineoscrotal hypospadias
PPSH
A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the steroid 5-alpha reductase family.
Expressed in high levels in the prostate and many other androgen-sensitive tissues.
Proteins
28393Da
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