The molecular basis of cystinuria: an update.

@article{Goodyer2000TheMB,
  title={The molecular basis of cystinuria: an update.},
  author={Paul R. Goodyer and Marylise Boutros and Rima R. Rozen},
  journal={Experimental nephrology},
  year={2000},
  volume={8 3},
  pages={123-7}
}
Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal proximal tubule and small intestine. In 1992, a cDNA (rBAT) was isolated from kidney which induced high-affinity, sodium-independent uptake of cystine and dibasic amino acids when expressed in Xenopus oocytes. The rBAT gene was mapped to a region of chromosome 2p known to contain a cystinuria locus, and rBAT expression was demonstrated in the straight (S3) portion of renal… CONTINUE READING