HSD17B8

Protein HSD17B8 PDB 2pd6

HSD17B8

HSD17B8 is a gene that encodes for the enzyme 17-beta-hydroxysteroid dehydrogenase 8. This enzyme is involved in the metabolism of various hormones, particularly androgens and estrogens. The HSD17B8 gene is located on chromosome 4 in humans.

Function

The primary function of HSD17B8 is to catalyze the conversion of estrone to estradiol, a process crucial in estrogen biosynthesis. Additionally, HSD17B8 plays a role in the metabolism of other steroids, such as testosterone and androstenedione.

Structure

The HSD17B8 enzyme belongs to the short-chain dehydrogenase/reductase (SDR) superfamily. It contains a conserved NAD(P)(H)-binding domain that is essential for its enzymatic activity.

Clinical Significance

Mutations in the HSD17B8 gene have been associated with various disorders, including hormone-related conditions such as polycystic ovary syndrome (PCOS) and certain types of cancer. Dysregulation of HSD17B8 activity can lead to imbalances in hormone levels, contributing to disease pathogenesis.

Regulation

The expression of HSD17B8 is tightly regulated at the transcriptional and post-translational levels. Various factors, including hormones and signaling pathways, can influence the activity of HSD17B8 in different tissues.

Interactions

HSD17B8 interacts with other enzymes and proteins involved in steroid metabolism, such as aromatase and steroid hormone receptors. These interactions are essential for coordinating the biosynthesis and degradation of steroid hormones in the body.