HSD17B2

HSD17B2 is a human gene that encodes a protein belonging to the short-chain dehydrogenases/reductases (SDR) superfamily. The protein product of this gene, also known as 3-keto-5 alpha-secondary alcohol reductase, plays a role in the metabolism of steroids and other short-chain alcohols.

The HSD17B2 gene is located on the short arm of chromosome 16 and consists of five exons. It is expressed in various tissues, including the liver, kidneys, and adrenal glands. The protein product of this gene is involved in the reduction of 3-ketosteroids to their corresponding 3-alpha-hydroxy steroids, making it a key enzyme in the biosynthesis of steroid hormones.

Mutations in the HSD17B2 gene have been associated with various diseases, including.Manifestingdysplasia, Conradi-Hünermann syndrome, and Pseudo-Von Recklinghausen fibrous dysplasia. These conditions are characterized by abnormalities in bone development and other tissues.

Research has been conducted to understand the molecular mechanisms underlying the pathological phenotypes associated with HSD17B2 mutations. Studies have shown that the dysfunction of the HSD17B2 protein product leads to the accumulation of 3-ketosteroids, which disrupt cellular signaling pathways and trigger the development of these conditions.

The protein product of the HSD17B2 gene also has a role in the regulation of inflammation and immune responses. The dysregulation of this process has been linked to various inflammatory and autoimmune diseases.

Further research is needed to fully understand the biological functions of HSD17B2 and its relevance to human disease.