Description

The SLC22A5 gene encodes 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. Carnitine is mainly obtained from the diet and is needed to bring fatty acids into mitochondria, the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During fasting period, fatty acids are also an important energy source for the liver and other tissues. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy (Di San Filippo et al., 2006).

External Information

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