| Gene Symbol | CTNS |
|---|---|
| Entrez Gene | 1497 |
| Alt Symbol | CTNS-LSB, PQLC4 |
| Species | Human |
| Gene Type | protein-coding |
| Description | cystinosin, lysosomal cystine transporter |
| Other Description | cystinosin |
| Swissprots | Q9UNK6 D3DTJ5 O60931 Q8IZ01 |
| Accessions | AAF43102 CAA75882 EAW90494 EAW90495 EAW90496 O60931 AJ222967 CAA11021 AK292019 BAF84708 AK296178 BAG58913 AK297525 BAG59928 AK309044 AK309651 BC032850 AAH32850 BX369529 CA454595 CR542058 CAG46855 DB026195 JF432879 ADZ16096 XM_005256485 XP_005256542 XM_006721463 XP_006721526 XM_006721464 XP_006721527 XM_011523691 XP_011521993 XM_011523692 XP_011521994 XR_934003 NM_001031681 NP_001026851 NM_004937 NP_004928 |
| Function | Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR. {ECO:0000269|PubMed:22649030}. |
| Subcellular Location | Isoform 1: Lysosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. Melanosome {ECO:0000269|PubMed:22649030}. |
| 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. {ECO:0000269|PubMed:22649030}. |
| Top Pathways | Lysosome |
Cystinosin (CTNS), Human, ELISA Kit - E01C2155 from ARP American Research Products
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Cystinosis, Nephropathic (CTNS), ELISA Kit - MBS9312782 from MyBioSource
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Human CTNS ELISA Kit - E010896 from Biobool
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Cystinosis, Nephropathic (CTNS), ELISA Kit - MBS9905587 from MyBioSource
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Cystinosis, Nephropathic (CTNS), ELISA Kit - MBS9905595 from MyBioSource
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Cystinosis, Nephropathic (CTNS), ELISA Kit - MBS9905580 from MyBioSource
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