CTNS Chromosome 17
Cystinosin, lysosomal cystine transporter
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 66
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000040531
Associated Conditions (12)
Ocular cystinosis
Nephropathic cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis
CTNS-related disorder
See cases
atypical nephropathic
Infantile nephropathic cystinosis
Gastric cancer
Renal tubulopathies
Nephrotic syndrome
Key Variants
RS111256750
Conflicting classifications of pathogenicity
Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis
Health Risk
RS1210146657
Conflicting classifications of pathogenicity
Ocular cystinosis, Nephropathic cystinosis, Inborn genetic diseases
Health Risk
RS121908128
Conflicting classifications of pathogenicity
Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis
Health Risk
RS138270433
Conflicting classifications of pathogenicity
Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis
Health Risk
RS142641674
Conflicting classifications of pathogenicity
Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis
Health Risk
RS144751390
Conflicting classifications of pathogenicity
Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis
Health Risk
RS146684402
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis
Health Risk
RS147565118
Conflicting classifications of pathogenicity
Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis
Health Risk
RS148662747
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis
Health Risk
RS187396540
Conflicting classifications of pathogenicity
Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases
Health Risk
RS199893334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199977728
Conflicting classifications of pathogenicity
Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555563441 | Health Risk | Pathogenic | — |
| RS1555563446 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases |
| RS1555563982 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS1567695026 | Health Risk | Pathogenic | Nephropathic cystinosis, Nephropathic cystinosis |
| RS1567701415 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS1597619719 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2075650925 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2076101632 | Health Risk | Pathogenic | Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases |
| RS2076101974 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2076150607 | Health Risk | Pathogenic | Nephropathic cystinosis, Nephropathic cystinosis |
| RS2076198741 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2076198775 | Health Risk | Pathogenic | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2142981161 | Health Risk | Pathogenic | Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis |
| RS2150904623 | Health Risk | Pathogenic | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2150904759 | Health Risk | Pathogenic | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2150906974 | Health Risk | Pathogenic | Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis |
| RS2150919035 | Health Risk | Pathogenic | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2150922730 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2150923282 | Health Risk | Pathogenic | Nephropathic cystinosis, Nephropathic cystinosis |
| RS2150925108 | Health Risk | Pathogenic | Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis |
| RS2507610571 | Health Risk | Pathogenic | Ocular cystinosis, Ocular cystinosis |
| RS2507686230 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2507696018 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2507697337 | Health Risk | Pathogenic | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2507742712 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2507745496 | Health Risk | Pathogenic | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2507745996 | Health Risk | Pathogenic | Nephropathic cystinosis, Nephropathic cystinosis |
| RS2507761574 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2507775363 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2507789960 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS2507793620 | Health Risk | Pathogenic | Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS2507794316 | Health Risk | Pathogenic | Cystinosis, Cystinosis |
| RS2507794658 | Health Risk | Pathogenic | Nephropathic cystinosis, Nephropathic cystinosis |
| RS375952052 | Health Risk | Pathogenic | Nephropathic cystinosis, Infantile nephropathic cystinosis, Inborn genetic diseases |
| RS745365232 | Health Risk | Pathogenic | Nephropathic cystinosis, Cystinosis, Nephropathic cystinosis |
| RS746307931 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS749317721 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS752180212 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS752919200 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS756182448 | Health Risk | Pathogenic | Cystinosis, Cystinosis |
| RS759623796 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS760256854 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS760905567 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS763089013 | Health Risk | Pathogenic | Nephropathic cystinosis, Nephropathic cystinosis |
| RS766981777 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS770145986 | Health Risk | Pathogenic | Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS778414542 | Health Risk | Pathogenic | Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis |
| RS786204420 | Health Risk | Pathogenic | Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis |
| RS786204434 | Health Risk | Pathogenic | Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis |
| RS786204501 | Health Risk | Pathogenic | Juvenile nephropathic cystinosis, Nephropathic cystinosis, Infantile nephropathic cystinosis |