Abstract 790 Mechanisms in Hereditary Disease Platform, Tuesday, 5/4

Nephropathic cystinosis is a lysosomal storage disease due to defective transport of the disulfide amino acid, cystine, across the lysosomal membrane. The cystine carrier is presumably encoded by the cystinosis gene, CTNS, located on chromosome 17p. CTNS contains 12 exons distributed across 23 kb of genomic DNA and predicted to produce a 367 amino acid peptide with 7 transmembrane domains and 8 potential glycosylation sites.

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