MMP10

MLYCD

The MLYCD gene encodes the enzyme malonyl-CoA decarboxylase, which is crucial in fatty acid metabolism. This enzyme catalyzes the decarboxylation of malonyl-CoA to acetyl-CoA and carbon dioxide, a reaction that plays a significant role in regulating the levels of malonyl-CoA, a key molecule in the synthesis and oxidation of fatty acids.

Function

Malonyl-CoA decarboxylase is an enzyme that helps maintain the balance between fatty acid synthesis and oxidation. Malonyl-CoA is an inhibitor of carnitine palmitoyltransferase 1 (CPT1), the enzyme responsible for transporting fatty acids into the mitochondria for β-oxidation. By converting malonyl-CoA to acetyl-CoA, MLYCD reduces the inhibition of CPT1, thereby promoting fatty acid oxidation.

Clinical Significance

Mutations in the MLYCD gene can lead to malonyl-CoA decarboxylase deficiency, a rare metabolic disorder characterized by the accumulation of malonyl-CoA. This condition can result in developmental delay, cardiomyopathy, metabolic acidosis, and other symptoms. Early diagnosis and management are crucial for improving outcomes in affected individuals.

Genetic Information

The MLYCD gene is located on chromosome 16q23.3. It consists of multiple exons and encodes a protein that is expressed in various tissues, including the liver, heart, and brain. The gene is subject to alternative splicing, resulting in different isoforms of the enzyme.

Research and Developments

Ongoing research is focused on understanding the regulation of MLYCD expression and activity, as well as its role in metabolic diseases. Studies are also exploring potential therapeutic approaches for malonyl-CoA decarboxylase deficiency, including gene therapy and enzyme replacement therapy.

Also see

• Fatty acid metabolism
• Carnitine palmitoyltransferase I
• Metabolic disorders
• Enzyme replacement therapy