CTNS
Chr 17cystinosin, lysosomal cystine transporter
Also known as: CTNS-LSB, PQLC4, SLC66A4
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CTNS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
DFT383 in Pediatric Participants With Nephropathic Cystinosis
RECRUITINGCystinosis and Mitochondrial Metabolism
RECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGA Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
ENROLLING BY INVITATIONEuropean Cystinosis Cohort
RECRUITINGExternal Resources
Links to major genomics databases and tools