SLC22A5
SLC22A5
The SLC22A5 gene, also known as the solute carrier family 22 member 5, is a protein-coding gene in humans. It is responsible for the production of a protein called carnitine transporter 1 (OCTN1), which is crucial for the transport of carnitine in cells.
Function[edit | edit source]
The SLC22A5 gene provides instructions for making a protein that is involved in the transport of carnitine, a substance that plays a key role in the production of energy from fatty acids. This protein, known as OCTN1, is found in the cell membrane and transports carnitine into cells.
Clinical significance[edit | edit source]
Mutations in the SLC22A5 gene can lead to carnitine deficiency, a condition that prevents the body from using certain fats for energy, particularly during periods of fasting. This can lead to various symptoms such as muscle weakness, confusion, and heart problems.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
