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CTNS Antibody(C-term) Blocking peptide

Synthetic peptide

     
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Product Information
Primary Accession O60931
Clone Names 100623101
Additional Information
Gene ID 1497
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.
StorageMaintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.
PrecautionsThis product is for research use only. Not for use in diagnostic or therapeutic procedures.
Protein Information
Name CTNS {ECO:0000303|PubMed:9537412, ECO:0000312|HGNC:HGNC:2518}
Function Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704, PubMed:36113465). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (PubMed:36113465). Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity).
Cellular Location [Isoform 1]: Lysosome membrane; Multi-pass membrane protein. Melanosome membrane; Multi-pass membrane protein. Note=AP-3 complex is required for localization to the lysosome.
Tissue Location 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).
Research Areas
Citations (0)
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Background

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.

References

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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$ 277.78
Cat# BP19410b
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