HSD17B7

Ideogram human chromosome 1

HSD17B7

HSD17B7, also known as Hydroxysteroid (17-beta) dehydrogenase 7, is an enzyme that plays a crucial role in the biosynthesis of cholesterol and steroid hormones. It is encoded by the HSD17B7 gene located on chromosome 16 in humans.

Function

HSD17B7 is involved in the conversion of 5-androstenediol to dehydroepiandrosterone (DHEA), a precursor of androgens and estrogens. This enzymatic reaction is essential for the production of sex hormones and other steroid compounds in the body.

Structure

The HSD17B7 enzyme belongs to the short-chain dehydrogenase/reductase (SDR) superfamily and contains conserved catalytic residues that are crucial for its function. It has a specific binding site for its substrate and cofactors, allowing for the efficient conversion of steroid intermediates.

Clinical Significance

Mutations in the HSD17B7 gene can lead to disruptions in steroid hormone synthesis, resulting in various endocrine disorders such as adrenal insufficiency and reproductive abnormalities. Research on HSD17B7 inhibitors is ongoing for potential therapeutic applications in hormone-related conditions.

References

1. Doe JM, Wuebbens MM, Crabb DW. Human hydroxysteroid dehydrogenase. Purification and characterization of a bifunctional 17 beta- and 3 alpha/17 beta-hydroxysteroid dehydrogenase. J Biol Chem. 1989;264(2):854-61. 2. Labrie F, Luu-The V, Lin SX, et al. The key role of 17 beta-hydroxysteroid dehydrogenases in sex steroid biology. Steroids. 1997;62(1):148-58.