SLC6A18

SLC6A18 is a gene that encodes a protein in the human body. This protein is a member of the solute carrier family 6, which includes transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6A18 is specifically involved in the transport of amino acids.

Function

The protein encoded by the SLC6A18 gene is a sodium- and chloride-dependent neutral and basic amino acid transporter. It is predominantly expressed in the kidney and is responsible for the reabsorption of amino acids in the renal proximal tubule. This reabsorption process is crucial for the body's overall metabolism and homeostasis.

Clinical Significance

Mutations in the SLC6A18 gene have been associated with Imerslund-Gräsbeck syndrome, a rare inherited disorder characterized by vitamin B12 deficiency and proteinuria. This syndrome is caused by defective absorption of vitamin B12 in the intestine and defective reabsorption of protein in the kidney.

Research

Research into the SLC6A18 gene and its encoded protein is ongoing, with studies focusing on its role in amino acid transport and its potential involvement in other diseases. Understanding the function and regulation of this gene could provide insights into the mechanisms of amino acid homeostasis and the pathogenesis of related disorders.

See Also

• Solute carrier family
• Imerslund-Gräsbeck syndrome
• Proteinuria
• Vitamin B12 deficiency