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SLC7A7 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC7A7 gene

The SLC7A7 gene encodes a protein responsible for transporting essential amino acids, which is critical for protein synthesis and bodily function.

Normal Function

The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. The transportation of amino acids from the small intestine and kidneys to the rest of the body is necessary for the body to be able to make and use proteins. The y+LAT-1 protein forms one part (the light subunit) of a complex called the heterodimeric cationic amino acid transporter. This subunit is responsible for binding to the amino acids that are transported.

Health Conditions Related to Genetic Changes

Lysinuric protein intolerance

Variants (also called mutations) in the SLC7A7 gene have been found to cause lysinuric protein intolerance. All of these variants impair the y+LAT-1 protein's ability to transport amino acids. People with lysinuric protein intolerance who are of Finnish descent typically have the same variant, which disrupts the way the gene's instructions are used to make the y+LAT-1 protein, causing the protein to be misplaced in the cell.

Variants in the y+LAT-1 protein disrupt the transportation of amino acids, reducing the amount of lysine, arginine, and ornithine in the body and increasing the amount of these amino acids in urine. The abnormal transportation and reduced amount of these amino acids in various tissues of the body leads to the signs and symptoms of lysinuric protein intolerance.

Other Names for This Gene

  • LAT3
  • LPI
  • solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • y+LAT-1
  • Y+LAT1
  • YLAT1_HUMAN

Frequently Asked Questions

Lysinuric protein intolerance is inherited in an autosomal recessive pattern. This means that for a child to inherit LPI, they must receive a mutated SLC7A7 gene from both parents. If both parents are carriers (meaning they each have one normal and one mutated gene but do not have the condition themselves), there is a 25% chance with each pregnancy that their child will inherit LPI.
Individuals with lysinuric protein intolerance often experience symptoms such as poor growth, muscle weakness, an enlarged liver or spleen, and digestive issues like vomiting and diarrhea. They may also have a reduced tolerance for protein-rich foods and can develop kidney problems or bone abnormalities. In some cases, neurological symptoms can occur.
Management of LPI typically involves a low-protein diet to reduce the intake of amino acids that cannot be properly transported. Supplements of citrulline or arginine may be given to help support the urea cycle and reduce ammonia levels. Regular monitoring of amino acid and ammonia levels is crucial, and some individuals may benefit from carnitine supplementation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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