SLC7A7

Overview

The SLC7A7 gene encodes a protein that is part of the solute carrier family 7, specifically a member of the cationic amino acid transporter (CAT) family. This protein is crucial for the transport of certain amino acids across cell membranes, particularly in the kidney and intestine.

Function

The SLC7A7 protein functions as a transporter for cationic amino acids, such as lysine, arginine, and ornithine. It is a component of the heterodimeric amino acid transporter system y+L, which is responsible for the sodium-independent transport of cationic amino acids and the sodium-dependent transport of neutral amino acids.

Clinical Significance

Mutations in the SLC7A7 gene are associated with a rare genetic disorder known as Lysinuric protein intolerance (LPI). This condition is characterized by the body's inability to properly digest and utilize certain proteins, leading to a variety of symptoms including poor growth, muscle weakness, and osteoporosis.

Lysinuric Protein Intolerance (LPI)

LPI is an autosomal recessive disorder caused by mutations in the SLC7A7 gene. Patients with LPI exhibit elevated levels of lysine, arginine, and ornithine in their urine due to defective reabsorption in the kidneys. This results in a deficiency of these amino acids in the body, affecting protein synthesis and leading to the clinical manifestations of the disease.

Genetic Information

The SLC7A7 gene is located on chromosome 14q11.2. It consists of multiple exons and encodes a protein that is integrated into the plasma membrane of cells, where it functions as part of the amino acid transport system.

Research and Developments

Ongoing research is focused on understanding the precise mechanisms by which SLC7A7 mutations lead to LPI and exploring potential therapeutic approaches. Gene therapy and dietary management are areas of active investigation.

Also see

• Amino acid transporters
• Lysinuric protein intolerance
• Solute carrier family
• Genetic disorders