Protein name: CTNS Aliases: N/D Substrates: L-cystine [PMID: 11689434], L-selenocystine, L-cystathionine [PMID: 22232659] Transport type: Exchanger / H+ [PMID: 11689434] [PMID: 22232659] Tissue and cellular expression: Tubular epithelial cells of the kidney (mostly proximal tubules) [12138135, 18337546, 22544350], testis (particularly Leydig cells and germinal cells), pancreas (particularly islets of Langerhans), liver, placenta, skin (particularly pilosebacious units, keratinocytes, melanocytes, capillaries and venules), lungs (bronchial muco-serous glandular cells) [22544350] Subcellular expression: Lysosomes [PMID: 11150305], the "LKG" isoform also in the plasma membrane, endoplasmic reticulum, and cytoplasmic vesicles [PMID: 18337546] Disease: Cystinosis [PMID: 9792862] [PMID: 9537412] [PMID: 10556299] [PMID: 10444339] Locus: 17p13.2 Sequence ID: Gene ID: Splice variants: N/D


Gene names: CTNS
Protein names and data: CTNS_HUMAN, Full=Cystinosin Length: 367 a.a., Mass: 41738 Da,
fasta formatted sequence

Database cross-references

UniProt: O60931

Genetic variants