RGD Reference Report - Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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

Authors: Calonge, MJ  Gasparini, P  Chillaron, J  Chillon, M  Gallucci, M  Rousaud, F  Zelante, L  Testar, X  Dallapiccola, B  Di Silverio, F 
Citation: Calonge MJ, etal., Nat Genet. 1994 Apr;6(4):420-5.
RGD ID: 1600015
Pubmed: (View Article at PubMed) PMID:8054986
DOI: Full-text: DOI:10.1038/ng0494-420

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.

Annotation

Disease Annotations    
cystinuria  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Slc3a1  (solute carrier family 3 member 1)

Genes (Mus musculus)
Slc3a1  (solute carrier family 3, member 1)

Genes (Homo sapiens)
SLC3A1  (solute carrier family 3 member 1)


Additional Information