CTNS
Chr 17ARcystinosin, 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
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
A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
ENROLLING BY INVITATIONRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGDFT383 in Pediatric Participants With Nephropathic Cystinosis
RECRUITINGCystinosis and Mitochondrial Metabolism
RECRUITINGEuropean Cystinosis Cohort
RECRUITINGExternal Resources
Links to major genomics databases and tools