Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

María Julia Calonge, Paolo Gasparini, Josep Chillarón, Miguel Chillón, Michele Gallucci, Ferran Rousaud, Leopoldo Zelante, Xavier Testar, Bruno Dallapiccola, Franco Di Silverio, Pedro Barceló, Xavier Estivill, Antonio Zorzano, Virginia Nunes, Manuel Palacín

Research output: Contribution to journalArticle

Abstract

Cystinuria is a classic heritable aminoaciduria that involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine. Six missense mutations in the human rBAT gene, which is involved in high-affinity transport of cystine and dibasic amino acids in kidney and intestine, segregate with cystinuria. These mutations account for 30% of the cystinuria chromosomes studied. Homozygosity for the most common mutation (M467T) was detected in three cystinuric siblings. Mutation M467T nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes. These results establish rBAT as a cystinuria gene.

Original languageEnglish
Pages (from-to)420-425
Number of pages6
JournalNature Genetics
Volume6
Issue number4
DOIs
Publication statusPublished - Apr 1994

    Fingerprint

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Calonge, M. J., Gasparini, P., Chillarón, J., Chillón, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F., Barceló, P., Estivill, X., Zorzano, A., Nunes, V., & Palacín, M. (1994). Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genetics, 6(4), 420-425. https://doi.org/10.1038/ng0494-420