Hydroxysteroid (17-beta) Dehydrogenase 14 (HSD17B14) is an enzyme that belongs to the family of hydroxysteroid dehydrogenases. These enzymes play a crucial role in the metabolism of steroids, particularly at the C17 position. HSD17B14 is involved in the conversion of estradiol to estrone, among other functions. This enzyme is encoded by the HSD17B14 gene in humans.
The HSD17B14 gene is located on chromosome 19 and is a protein-coding gene. The gene is also known by several aliases, including DHRS10, SDR47C1, and RetSDR3 . The protein encoded by this gene is part of the short-chain dehydrogenase/reductase (SDR) family, which is characterized by its ability to catalyze the oxidation and reduction of various substrates.
HSD17B14 has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. It primarily converts estradiol to estrone, although its physiological substrate is not fully known. The enzyme also acts on 5-androstene-3-beta,17-beta-diol in vitro . The primary function of HSD17B14 is to regulate the levels of active and inactive forms of steroids, thereby playing a significant role in steroid hormone metabolism.
HSD17B14 is involved in several metabolic pathways, including the metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase [NAD(P)] activity . The enzyme’s activity is crucial for maintaining the balance of steroid hormones in the body, which is essential for various physiological processes.
The role of HSD17B14 in steroid metabolism makes it a potential target for therapeutic interventions, particularly in conditions related to hormone imbalances. However, the full extent of its clinical significance is still under investigation. Research has shown that other isoforms of 17-beta-hydroxysteroid dehydrogenases are involved in various diseases, including breast cancer .
Human recombinant HSD17B14 is produced using recombinant DNA technology, which involves inserting the HSD17B14 gene into a suitable expression system, such as bacteria or yeast. This allows for the large-scale production of the enzyme for research and therapeutic purposes. Recombinant HSD17B14 is used in various biochemical assays to study its function and interactions with other molecules.