SLC22A5
solute carrier family 22 member 5
Normal Function
Health Conditions Related to Genetic Changes
Primary carnitine deficiency
Many variants (also called mutations) in the SLC22A5 gene have been found to cause primary carnitine deficiency. Some of these variants create a premature stop signal in the instructions for making the OCTN2 protein, resulting in an abnormally short, nonfunctional protein. Other variants change single protein building blocks (amino acids) in the OCTN2 protein or prevent the protein from being produced at all.
A lack of functional OCTN2 proteins create a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.
More About This Health ConditionRelated Conditions
Primary carnitine deficiencyCrohn's disease
Health Conditions Related to Genetic Changes
Many variants (also called mutations) in the SLC22A5 gene have been found to cause primary carnitine deficiency. Some of these variants create a premature stop signal in the instructions for making the OCTN2 protein, resulting in an abnormally short, nonfunctional protein. Other variants change single protein building blocks (amino acids) in the OCTN2 protein or prevent the protein from being produced at all.
A lack of functional OCTN2 proteins create a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.
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