Acyl-coa synthetase medium chain family member 2a

Acyl-CoA Synthetase Medium Chain Family Member 2A (ACSM2A) is a protein that in humans is encoded by the ACSM2A gene. This protein is part of the Acyl-CoA synthetase family, which is involved in fatty acid metabolism.

Function

ACSM2A is an enzyme that plays a crucial role in fatty acid metabolism. It catalyzes the initial step of the fatty acid beta-oxidation pathway, which is the conversion of long-chain fatty acids into their active form, acyl-CoA. This process is essential for the breakdown and utilization of dietary fats.

Structure

The ACSM2A protein is a member of the acyl-CoA synthetase medium-chain family. It is composed of 578 amino acids and has a molecular weight of approximately 66 kDa. The protein has a conserved AMP-binding domain, which is characteristic of acyl-CoA synthetases.

Clinical Significance

Mutations in the ACSM2A gene have been associated with various metabolic disorders. For example, a deficiency in ACSM2A activity can lead to an inability to metabolize certain types of fatty acids, which can result in a variety of symptoms, including cardiomyopathy, muscle weakness, and hypoglycemia.

See Also

• Acyl-CoA synthetase
• Fatty acid metabolism
• Beta-oxidation