Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

Cystinuria is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in urolithiasis of cystine. Cystinuria is caused by defects in the amino acid transport system b0,+ (i.e.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Recent developments in the genetics and physiology of cystinuria do not support the traditional classification, which is based on the excretion of cystine and dibasic amino acids in obligate heterozygotes. Mutations of only two genes (SLC3A1 and SLC7A9), identified by the International Cystinuria Consortium (ICC), have been found to be responsible for all three types of the disease. The ICC set up a multinational database and collected genetic and clinical data from 224 patients affected by cystinuria, 125 with full genotype definition.

rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.

Mutations in the rBAT and b(0,+)AT genes cause type I and non-type I cystinuria, respectively. The disulfide-linked rBAT-b(0,+)AT heterodimer mediates high-affinity transport of cystine and dibasic amino acids (b(0,+)-like activity) in heterologous cell systems. However, the significance of this heterodimer for cystine reabsorption is unknown, as direct evidence for such a complex in vivo is lacking and the expression patterns of rBAT and b(0,+)AT along the proximal tubule are opposite.