HSD3B7 : hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Description
The HSD3B7 gene, located on chromosome 1, encodes for the enzyme 3β-hydroxysteroid dehydrogenase type 7. This enzyme plays a crucial role in the biosynthesis of steroid hormones, primarily in the adrenal glands and gonads. HSD3B7 is responsible for converting pregnenolone, a precursor steroid, into progesterone. Progesterone is essential for reproductive health in both males and females. Additionally, HSD3B7 contributes to the synthesis of other steroid hormones, including cortisol and aldosterone.
Associated Diseases
- Congenital Adrenal Hyperplasia (CAH) due to 3β-hydroxysteroid dehydrogenase deficiency
- Adrenal insufficiency
- Infertility
- Polycystic Ovary Syndrome (PCOS)
- Premature ovarian failure
Did you know?
Mutations in the HSD3B7 gene can lead to a rare disorder called 3β-hydroxysteroid dehydrogenase deficiency, which results in impaired production of cortisol and aldosterone.
