HMGCL : 3-hydroxy-3-methylglutaryl-CoA lyase
Description
The HMGCL gene provides instructions for making an enzyme called 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL). This enzyme plays a vital role in the breakdown of certain molecules, including leucine and cholesterol. It functions in the last step of the breakdown of leucine, a crucial amino acid, and also participates in the degradation of cholesterol, a fat-like substance essential for cell function. Mutations in the HMGCL gene can disrupt these processes, leading to a variety of health issues.
Associated Diseases
Did you know?
HMGCL deficiency is a rare genetic disorder, affecting about 1 in 100,000 individuals.
