AACS

The AACS gene encodes the enzyme acetoacetyl-CoA synthetase, which plays a crucial role in lipid metabolism by converting acetoacetate to acetoacetyl-CoA in the cytosol. This enzyme is involved in pathways such as metabolism and ketone body metabolism.

Associated Diseases 

Notably, mutations in the AACS gene have been associated with Atrial Septal Defect 8, a congenital heart condition characterized by a hole in the wall between the two upper chambers of the heart. Understanding the function and associations of the AACS gene is essential for insights into metabolic processes and potential implications in disease.