This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.
Applications
Suitable for use in Immunofluorescence and Western Blot. Other applications not tested.
Recommended Dilution
Immunofluorescence: 1:50-1:100 Western Blot: 1:500-1:2000 Optimal dilutions to be determined by the researcher.
Storage and Stability
May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Immunogen
Recombinant protein corresponding to human CTNS.
Form
Supplied as a liquid in PBS, pH 7.3, 0.02% sodium azide, 50% glycerol.
Purity
Purified by affinity chromatography.
Specificity
Recognizes human CTNS.