ACAT1 : acetyl-CoA acetyltransferase 1

Understanding the ACAT1 Gene: A Master Regulator of Cellular Energy and Metabolism

Description

The ACAT1 (acetyl-CoA acetyltransferase 1) gene, located on chromosome 3q13.33, is responsible for encoding an enzyme crucial for cellular metabolism and energy production. This enzyme resides within the mitochondria, the powerhouses of cells, and plays a pivotal role in breaking down proteins and fats to generate energy.

Associated Diseases

Mutations in the ACAT1 gene have been linked to several metabolic disorders, including:

• Isovaleric acidemia: A rare genetic condition characterized by elevated levels of isovaleryl-CoA, leading to neurological symptoms such as seizures and developmental delays.
• Ketolytic defects: Impaired ketone breakdown, affecting energy production in the brain and liver.
• Maple syrup urine disease: A rare inherited disorder that results in toxic accumulation of branched-chain amino acids, including isoleucine.

Did you Know ?

In individuals with isovaleric acidemia caused by ACAT1 mutations, the average age of disease onset is around 10 months old. Early diagnosis and treatment are critical to prevent severe complications.