Genomic Organization ofSLC3A1,a Transporter Gene Mutated in Cystinuria

TheSLC3A1gene encodes a transport protein for cystine and the dibasic amino acids. Recently mutations in this gene have been shown to cause cystinuria. We report the genomic structure and organization ofSLC3A1,which is composed of 10 exons and spans nearly 45 kb. Until now screening for mutations inSLC3A1has been based on RT-PCR amplification of illegitimate mRNA transcripts from white blood cells. In this report we provide primers for amplification of exons from genomic DNA, thus simplifying the process of screening forSLC3A1mutations in cystinuria.