|Other Names||Cystinosin, CTNS|
|Format||Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.|
|Cellular Location||[Isoform 1]: Lysosome membrane; Multi-pass membrane protein. Melanosome|
|Tissue Location||Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). 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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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a seven-transmembrane domain proteinthat functions to transport cystine out of lysosomes. Its activityis driven by the H+ electrochemical gradient of the lysosomalmembrane. Mutations in this gene cause cystinosis, a lysosomalstorage disorder. Alternative splicing results in multipletranscript variants.
Taranta, A., et al. Pediatr. Nephrol. 25(7):1263-1267(2010)Bellomo, F., et al. Free Radic. Biol. Med. 48(7):865-872(2010)Kumar, A., et al. J. Biosci. 35(1):21-25(2010)Aldahmesh, M.A., et al. Ophthalmic Genet. 30(4):185-189(2009)Macias-Vidal, J., et al. Clin. Genet. 76(5):486-489(2009)
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