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SLC22A5
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs121908893 | |||
| rs1328499792 | |||
| rs2631365 | |||
| rs274558 | |||
| rs11748193 | |||
| rs201082652 | |||
| rs35260072 | |||
| rs419291 | |||
| rs76030196 | |||
| rs10076701 | |||
| rs10900809 | |||
| rs11242115 | |||
| rs112537099 | |||
| rs162887 | |||
| rs162904 | |||
| rs188425432 | |||
| rs2070721 | |||
| rs2549007 | |||
| rs2549009 | |||
| rs2706384 |
Find on This Page
Summary
The gene codes for a protein, solute carrier family 22 member 5. Mutations may cause systemic primary carnitine deficiency (CDSP) [R].
Protein names
Found in These Blog Articles
GHR 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. Carnitine is mainly obtained from the diet and is needed to bring certain types of fats (fatty acids) into mitochondria, 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 are also an important energy source for the liver and other tissues.
More Information
OCTN2 (also known as SLC22A5) encodes a protein called OCTN2 that transports a substance known as carnitine into the cell. Carnitine is needed to bring fatty acids into mitochondria to provide energy for cells and tissues (R).
Mutations in this gene can cause carnitine deficiency, which leads to muscle weakness and can damage muscles, the heart, and the liver (R).
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