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https://hdl.handle.net/2440/11491
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Type: | Journal article |
Title: | A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. |
Author: | Town, M. Jean, G. Cherqui, S. Attard, M. Forestier, L. Whitmore, S. Callen, D. Gribouval, O. Broyer, M. Bates, G. van't Hoff, W. Antignac, C. |
Citation: | Nature Genetics, 1998; 18(4):319-324 |
Publisher: | NATURE PUBLISHING GROUP |
Issue Date: | 1998 |
ISSN: | 1061-4036 1546-1718 |
Statement of Responsibility: | 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 |
DOI: | 10.1038/ng0498-319 |
Published version: | http://dx.doi.org/10.1038/ng0498-319 |
Appears in Collections: | Aurora harvest 2 Genetics publications |
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