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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

Target type

Proteins

Molecular weight

28393Da