CRAT

Description

The CRAT gene (Carnitine O-Palmitoyltransferase 1) encodes a crucial enzyme involved in fatty acid metabolism. It facilitates the transport of long-chain fatty acids into mitochondria, where they are broken down to generate energy. This process, known as beta-oxidation, is essential for various cellular functions, including muscle contraction, brain function, and energy production. Mutations in the CRAT gene can disrupt this vital pathway, leading to a range of health complications.

Associated Diseases

• Carnitine palmitoyltransferase 1 deficiency (CPT1 deficiency)
• Myopathy
• Hepatic encephalopathy
• Hypoglycemia
• Cardiomyopathy

Did you know?

CRAT gene mutations are particularly prevalent in individuals of Scandinavian descent, highlighting potential genetic predisposition.