HSD17B7

HSD17B7, or Hydroxysteroid 17-Beta Dehydrogenase 7, is a human gene that encodes an enzyme belonging to the short-chain dehydrogenase/reductase (SDR) superfamily. The protein produced by this gene is known as 17β-hydroxysteroid dehydrogenase type 7 (17β-HSD7), also referred to as estradiol 17-beta-dehydrogenase 7 or 3-ketoacyl-CoA reductase.

17β-HSD7 plays a critical role in steroid hormone biosynthesis, specifically in the conversion of estrone to estradiol, a potent estrogen. However, unlike other 17β-HSD enzymes, 17β-HSD7 exhibits a unique substrate preference. It is primarily responsible for the reduction of estrone to estradiol in the early stages of estrogen synthesis, particularly within the endoplasmic reticulum. It is also involved in cholesterol metabolism.

The enzyme's activity is crucial for proper ovarian function and the development of secondary sexual characteristics in females. Furthermore, 17β-HSD7 plays a role in embryonic development.

Mutations in the HSD17B7 gene have been linked to various disorders, including congenital disorders of glycosylation type Iq (CDG-Iq). This condition is characterized by intellectual disability, skeletal abnormalities, and abnormal glycosylation patterns. Reduced or absent 17β-HSD7 activity disrupts the proper biosynthesis of dolichol-phosphate-mannose, a crucial precursor for glycosylation.

The HSD17B7 gene is located on chromosome 15q21.3. Research into the structure, function, and regulation of HSD17B7 continues to provide insights into steroid hormone metabolism and associated diseases.