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|Title:||A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.|
van't Hoff, W.
|Citation:||Nature Genetics, 1998; 18(4):319-324|
|Publisher:||NATURE PUBLISHING GROUP|
|Margaret Town, Geneviève Jean, Stèphanie Cherqui, Marlene Attard, Lionel Forestier, Scott A. Whitmore, David F. Callen, Olivier Gribouval, Michel Broyer, Gillian P. Bates, William van't Hoff & Corinne Antignac|
|Abstract:||Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal Fanconi syndrome. The cystinosis gene has been mapped to chromosome 17p13. We found that the locus D17S829 was homozygously deleted in 23 out of 70 patients, and identified a novel gene, CTNS, which mapped to the deletion interval. CTNS encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein. Eleven different mutations, all predicted to cause loss of function of the protein, were found to segregate with the disorder.|
|Keywords:||Chromosomes, Human, Pair 17; Humans; Kidney Diseases; Cystinosis; Glycoproteins; Membrane Transport Proteins; Amino Acid Transport Systems, Neutral; Membrane Proteins; Genetic Markers; Cloning, Molecular; Pedigree; Gene Expression; Gene Deletion; Amino Acid Sequence; Sequence Homology, Amino Acid; Point Mutation; Polymorphism, Single-Stranded Conformational; Genes; Genetic Vectors; Cosmids; Exons; Molecular Sequence Data; Family Health; Female; Male|
|Appears in Collections:||Genetics publications|
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