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. Carnitine is mainly obtained from food and is needed to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods without food (fasting), fatty acids become the most important energy source for the heart and other muscles.
Other Names
CDSP; high-affinity sodium dependent carnitine cotransporter; novel organic cation transporter 2; OCTN2; organic cation transporter 5; organic cation/carnitine transporter 2; S22A5_HUMAN; SCD; solute carrier family 22 (organic cation transporter), member 5; solute carrier family 22 (organic cation/carnitine transporter), member 5
Related Genetics Topics
Identifiers
- NCBI Gene: 6584
- OMIM: 603377
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
