HSD17B3 : hydroxysteroid 17-beta dehydrogenase 3
Description
The HSD17B3 gene encodes for the enzyme 17beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3), a crucial component of steroid hormone biosynthesis. 17β-HSD3 is primarily responsible for converting androstenedione to testosterone in the testes, a critical step in male sexual development. This enzyme also plays a role in the production of other steroid hormones, including estrogen and progesterone, in various tissues. Dysregulation of HSD17B3 activity can lead to hormonal imbalances, affecting reproductive health and overall well-being.
Associated Diseases
Did you know?
Mutations in the HSD17B3 gene can cause a rare genetic condition known as 17β-hydroxysteroid dehydrogenase type 3 deficiency, leading to a lack of testosterone production and male pseudohermaphroditism.