CPT2 : carnitine palmitoyltransferase 2

Description

The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2 (CPT2). This enzyme plays a crucial role in the breakdown of fatty acids, particularly long-chain fatty acids, within the mitochondria. These organelles are responsible for generating energy in our cells. CPT2 helps transport fatty acids into the mitochondria where they can be broken down to produce ATP, a molecule that fuels cellular processes. When CPT2 doesn‘t work properly, it can lead to a buildup of fatty acids in the blood and tissues, causing various health issues.

Associated Diseases

• Carnitine palmitoyltransferase 2 deficiency (CPT2 deficiency)
• Myopathy
• Hepatopathy
• Cardiomyopathy
• Hypoglycemia
• Sudden infant death syndrome (SIDS)

Did you know?

CPT2 deficiency is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for their child to inherit the condition.