ACOT7
Acot7: Unraveling the Secrets of a Versatile Protein
Description
Acot7, also known as acyl-CoA thioesterase 7, is an enzyme that plays a crucial role in cellular metabolism, particularly in the breakdown of fatty acids. It is a member of the thioesterase family, enzymes that hydrolyze thioester bonds, and specifically resides in the outer mitochondrial membrane. Acot7 is responsible for cleaving long-chain fatty acyl-CoA molecules into their free fatty acid and CoA components. This process is essential for numerous cellular functions, including energy production, lipid metabolism, and signal transduction.
Associated Diseases
Dysfunction or mutations in Acot7 have been implicated in several human diseases, including:
- Barth Syndrome: A rare mitochondrial disorder caused by mutations in the gene encoding Acot7. Symptoms include cardiomyopathy, skeletal muscle weakness, and growth delays.
- Infantile Encephalopathy: A severe neurological disorder with seizures, developmental regression, and early death. Mutations in Acot7 are a common cause of this condition.
- Hepatocellular Carcinoma: A type of liver cancer in which Acot7 expression is frequently decreased. Reduced Acot7 activity may contribute to tumor growth and progression.
- Obesity and Insulin Resistance: Studies have linked decreased Acot7 activity to impaired glucose metabolism and weight gain, suggesting a possible role in metabolic disorders.
Did you Know ?
- Acot7 is estimated to account for approximately 70% of the total fatty acid thioesterase activity in the heart, highlighting its significant impact on cardiac metabolism.
