HMGCS2
Description
The HMGCS2 gene, also known as the hydroxymethylglutaryl-CoA synthase 2 gene, provides instructions for making an enzyme that plays a crucial role in the production of cholesterol. This enzyme, HMG-CoA synthase 2, catalyzes the first committed step in the mevalonate pathway, a critical metabolic pathway responsible for the synthesis of cholesterol and other essential isoprenoids. Cholesterol is a vital component of cell membranes, hormones, and other important molecules. However, high levels of cholesterol in the blood can contribute to the development of cardiovascular disease.
Associated Diseases
Did you know?
Mutations in the HMGCS2 gene can lead to a rare genetic disorder called mevalonic aciduria, characterized by accumulation of mevalonic acid in the body.
