The primary function of E2entsyymiä is to catalyze the interconversion of inactive steroids, such as androstenedione and etiocholanolone, to their active forms, androstenediol and etiocholanolone, respectively. These active steroids are known to have various biological effects, including the modulation of gene expression, cell proliferation, and differentiation.
In the brain, E2entsyymiä is involved in the metabolism of neurosteroids, which are steroid hormones that act on the central nervous system. Neurosteroids, such as allopregnanolone and pregnenolone sulfate, are derived from cholesterol and have been implicated in various neurological processes, including memory formation, learning, and stress response.
E2entsyymiä is also involved in the metabolism of sex steroids, such as testosterone and estrogen. In the liver, the enzyme catalyzes the conversion of testosterone to its more potent metabolite, 5-alpha-androstane-3-beta,17-beta-diol (DHT), which is known to play a role in the development of prostate cancer. In the brain, E2entsyymiä is involved in the metabolism of estrogen, which has been implicated in the modulation of cognitive function and behavior.
Mutations in the E2entsyymiä gene have been associated with various disorders, including congenital adrenal hyperplasia and certain types of cancer. Congenital adrenal hyperplasia is a group of inherited disorders that affect the adrenal glands, leading to the overproduction of certain hormones. In some cases, mutations in the E2entsyymiä gene have been found to cause this condition.
In cancer, E2entsyymiä has been implicated in the development of prostate cancer, as it catalyzes the conversion of testosterone to DHT, which is a potent mitogen for prostate cancer cells. Additionally, E2entsyymiä has been shown to play a role in the development of breast cancer, as it is involved in the metabolism of estrogen, which is a known risk factor for breast cancer.