SLC22A5

SLC22A5

Solute carrier family 22 (organic cation/carnitine transporter), member 5
Identifiers
SLC22A5 Gene
RNA expression pattern

SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. 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.[1]

See also

References

Further reading

External links

  • Medical Subject Headings (MeSH)
  • Primary Carnitine Deficiency (OCTN2 database)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.