| Tissue Specificity | 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. |
| Function | Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes. Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis. 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. Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity. |
| Protein Name | Cystinosin |
| Database Links | Reactome: R-HSA-425393Reactome: R-HSA-5223345 |
| Cellular Localisation | Isoform 1: Lysosome MembraneMulti-Pass Membrane ProteinMelanosome MembraneAp-3 Complex Is Required For Localization To The LysosomeIsoform 2: Lysosome MembraneCell Membrane |
| Alternative Antibody Names | Anti-Cystinosin antibodyAnti-CTNS antibody |
Information sourced from Uniprot.org
