HGSNAT : heparan-alpha-glucosaminide N-acetyltransferase

Description

HGSNAT, or Hydroxysteroid Sulfotransferase, is a crucial enzyme involved in the detoxification and metabolism of various steroid hormones, bile acids, and drugs. It plays a significant role in maintaining hormonal balance, lipid homeostasis, and overall metabolic health. HGSNAT is encoded by the HGSNAT gene, which is located on chromosome 16. The enzyme catalyzes the transfer of a sulfate group from a donor molecule, 3‘-phosphoadenosine 5‘-phosphosulfate (PAPS), to a wide range of steroid substrates. This sulfation process alters the substrates‘ properties, rendering them more water-soluble and facilitating their excretion from the body. Defects in HGSNAT activity can disrupt these metabolic processes and lead to various health issues.

Associated Diseases

• X-linked ichthyosis (XLI): This condition is characterized by dry, scaly skin, typically caused by a deficiency in steroid sulfatase (STS) activity, which is closely related to HGSNAT.
• Adrenal insufficiency: Deficient HGSNAT activity can contribute to impaired steroid hormone metabolism, potentially leading to adrenal insufficiency.
• Hypercholesterolemia: Altered bile acid metabolism due to HGSNAT dysfunction can contribute to elevated cholesterol levels.
• Neurological disorders: Some studies suggest a potential link between HGSNAT gene variations and certain neurological disorders, but more research is needed.
• Drug interactions: HGSNAT can influence the metabolism of certain drugs, potentially leading to altered drug efficacy or adverse effects.

Did you know?

HGSNAT is highly expressed in the liver, skin, and adrenal glands, reflecting its crucial roles in these organs.