Article
ERS1 encodes a functional homologue of the human lysosomal cystine transporter.
The FEBS journal - 1 May 2005
Gao Xiao-Dong, Wang Ji, Keppler-Ross Sabine, Dean Neta
Abstract excerpt
Cystinosis is a lysosomal storage disease caused by an accumulation of insoluble cystine in the lumen of the lysosome. CTNS encodes the lysosomal cystine transporter, mutations in which manifest as a range of disorders and are the most common cause of inherited renal Fanconi syndrome. Cystinosin, the CTNS product, is highly conserved among mammals. Here we show that the yeast Ers1 protein and cystinosin are...
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