What does OCTN2 do?

What does OCTN2 do?

OCTN2 is a widely expressed organic cation transporter. It plays a key role in the oral absorption, tissue distribution, and renal reabsorption of L-carnitine.

Why is the carnitine shuttle necessary for oxidation of fatty acids?

The main function of carnitine is the transfer of long-chain fatty acids to mitochondria for subsequent β-oxidation [1]. Carnitine also binds acyl residues deriving from the intermediary metabolism of amino acids and help in their elimination functioning as a scavenger [2].

Where is OCTN2 located?

Normal Function. The SLC22A5 gene provides instructions for making a protein called OCTN2 that is found in the heart, liver, muscles, kidneys, and other tissues. This protein is positioned within the cell membrane, where it transports a substance known as carnitine into the cell.

What is primary carnitine deficiency?

Summary. Systemic primary carnitine deficiency (CDSP) is a rare metabolic disorder in which the body cannot properly process fats into energy. Carnitine functions to carry fatty acids obtained through diet to the energy centers in muscle cells (mitochondria).

What does carnitine shuttle transport?

The carnitine shuttle is responsible for transferring long-chain fatty acids across the barrier of the inner mitochondrial membrane to gain access to the enzymes of beta-oxidation.

What activates carnitine shuttle?

Carnitine shuttle activation occurs due to a need for fatty acid oxidation which is required for energy production. During vigorous muscle contraction or during fasting, ATP concentration decreases and AMP concentration increases leading to the activation of AMP-activated protein kinase (AMPK).

What causes carnitine transporter deficiency?

Inheritance. Primary carnitine deficiency is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder are carriers, which means they each carry one copy of the mutated gene.

What causes low levels of carnitine?

What causes carnitine deficiency? Carnitine deficiency may occur in response to a genetic mutation (gene defect) in the protein responsible for bringing carnitine into the cell (primary carnitine deficiency), or it may occur secondary to other metabolic diseases (secondary carnitine deficiency).

How do you increase carnitine naturally?

What foods provide carnitine? Animal products like meat, fish, poultry, and milk are the best sources. In general, the redder the meat, the higher its carnitine content. Dairy products contain carnitine primarily in the whey fraction [1,3,5].

What happens in carnitine deficiency?

Carnitine deficiency is a condition where the nutrient can’t reach your body’s cells. It can cause muscle weakness. It may also cause heart and liver problems. With the primary condition, not enough carnitine can get into cells because of a genetic problem.