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]
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]
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.
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