Home LiteratureArticle Details

PMID: 9537412 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Nature genetics ·Vol. 18 ·No. 4 ·1998-04-00 ·Pages 319-24

Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C

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.

MeSH Terms

Amino Acid Sequence Amino Acid Transport Systems, Neutral Chromosomes, Human, Pair 17/genetics Cloning, Molecular Cosmids/genetics Cystinosis/genetics Exons/genetics Family Health Female Gene Deletion Gene Expression/genetics Genes/genetics Genetic Markers/genetics Genetic Vectors/genetics Glycoproteins Humans Kidney Diseases/genetics Male Membrane Proteins/genetics,physiology Membrane Transport Proteins Molecular Sequence Data Pedigree Point Mutation/genetics,physiology Polymorphism, Single-Stranded Conformational Sequence Homology, Amino Acid

Chemicals

Amino Acid Transport Systems, Neutral CTNS protein, human Genetic Markers Glycoproteins Membrane Proteins Membrane Transport Proteins

Authors & Affiliations

12 authors, click to expand affiliations / ORCID

Town M

Division of Medical and Molecular Genetics, United Medical and Dental Schools, Guy's Hospital, London, UK. m.town@umds.ac.uk

Jean G

Cherqui S

Attard M

Forestier L

Whitmore S A

Callen D F

Gribouval O

Broyer M

Bates G P

van't Hoff W

Antignac C

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0498-319

m.town@umds.ac.uk

Published

1998-04-00

Pages

319-24

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

AJ222967, Y15922, Y15923, Y15924, Y15925, Y15926, Y15927, Y15928, Y15929, Y15930, Y15931, Y15932, Y15933

External Links

PubMed source DOI: 10.1038/ng0498-319 View journal details

Analysis Services

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Contact

WeChat Official Account