Anti-CTNS

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. [provided by RefSeq, Jul 2009], Protein 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). 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. Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity. [The UniProt Consortium] Recommended dilutions: WB 1:500-2000. Cellular localization: [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 .