SRD5A2
Function
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.
Involvement in disease
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.
Sequence Similarities
Belongs to the steroid 5-alpha reductase family.
Tissue Specificity
Expressed in high levels in the prostate and many other androgen-sensitive tissues.
Cellular localization
- Microsome membrane
- Multi-pass membrane protein
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
3-oxo-5-alpha-steroid 4-dehydrogenase 2, 5 alpha-SR2, SR type 2, Steroid 5-alpha-reductase 2, Type II 5-alpha reductase, S5AR 2, SRD5A2