功能： disease:Defects in CTNS are the cause of cystinosis [MIM:219800, 219900, 219750]. This autosomal recessive disorder results from defective lysosomal transport of cystine. The classical nephropathic form is characterized by renal failure at 10 years of age and other systemic complications. Milder phenotype exist such as intermediate cystinosis, with later onset of renal disease and benign or non-nephropathic cystinosis, with symptoms related only to corneal crystals and photophobia.,function:Thought to transport cystine out of lysosomes.,similarity:Belongs to the cystinosin family.,similarity:Contains 2 PQ-loop domains.,tissue specificity:Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Lysosome membrane ; Multi-pass membrane protein . Melanosome membrane ; Multi-pass membrane protein . AP-3 complex is required for localization to the lysosome. .; [Isoform 2]: Lysosome membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein .
组织表达： Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes (PubMed:22649030). Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal) (PubMed:22649030). ; [Isoform 2]: Represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
功能： disease:Defects in CTNS are the cause of cystinosis [MIM:219800, 219900, 219750]. This autosomal recessive disorder results from defective lysosomal transport of cystine. The classical nephropathic form is characterized by renal failure at 10 years of age and other systemic complications. Milder phenotype exist such as intermediate cystinosis, with later onset of renal disease and benign or non-nephropathic cystinosis, with symptoms related only to corneal crystals and photophobia.,function:Thought to transport cystine out of lysosomes.,similarity:Belongs to the cystinosin family.,similarity:Contains 2 PQ-loop domains.,tissue specificity:Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform 1]: Lysosome membrane ; Multi-pass membrane protein . Melanosome membrane ; Multi-pass membrane protein . AP-3 complex is required for localization to the lysosome. .; [Isoform 2]: Lysosome membrane ; Multi-pass membrane protein . Cell membrane ; Multi-pass membrane protein .
组织表达： Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes (PubMed:22649030). Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal) (PubMed:22649030). ; [Isoform 2]: Represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
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