A novel amino acid transporter - the basis for Hartnup disorder.
Hartnup disorder is an inherited disorder affecting the absorption of amino acids in the kidneys and the small intestine. Its diagnostic hallmark is a striking increase of neutral amino acids in the urine. Other symptoms reported in Hartnup disorder patients include a photosensitive skin rash, difficulties to control gait and psychotic behaviour.
The disease was first described in 1956 and it was soon proposed that mutations in an amino acid transporter may underlie the disease. In our studies we have identified a novel transporter (SLC6A19) isolated from mouse and human kidney, which shows all properties of the transporter affected in Hartnup disorder. Sequencing of the SLC6A19 gene from Hartnup patients subsequently demonstrated that the disorder is indeed caused by mutations in this gene.
Seow, H. F., Broer, S., Broer, A., Bailey, C. G., Potter, S. J., Cavanaugh, J. A. and Rasko, J. E. (2004). Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nature Genetics, 36 (9): 1003-7. Online
Bröer, A., Klingel, K., Kowalczuk, S., Rasko, J.E., Cavanaugh, J. and Broer, S. (2004) Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. J Biol Chem. 279 (23): 24467-24476.