SRD5A2

SRD5A2 is a gene that encodes the enzyme 5-alpha reductase type 2. This enzyme plays a crucial role in the metabolism of hormones, specifically the conversion of testosterone into dihydrotestosterone (DHT).

Function

The 5-alpha reductase type 2 enzyme, encoded by the SRD5A2 gene, is primarily found in the prostate gland, seminal vesicles, epididymides, and hair follicles, as well as the liver and skin. It is responsible for the conversion of testosterone, a steroid hormone, into its more potent form, dihydrotestosterone. This conversion is a critical step in the development of male secondary sexual characteristics at puberty.

Clinical significance

Mutations in the SRD5A2 gene can lead to 5-alpha reductase deficiency, a condition characterized by undermasculinization in genetic males. This can result in a range of phenotypes, from normal female genitalia to ambiguous genitalia.

In addition, variations in the SRD5A2 gene have been associated with an increased risk of prostate cancer. The enzyme it encodes is the target of 5-alpha reductase inhibitors, a class of drugs used in the treatment of benign prostatic hyperplasia and prostate cancer.

See also

• 5-alpha reductase
• 5-alpha reductase deficiency
• Testosterone
• Dihydrotestosterone
• Prostate cancer