The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

CTNS

—Cystinosin, Lysosomal Cystine Transporter

Chromosome: 17

Location: 17:3636446-3663103

OMIM: 606272

Ensembl: ENSG00000040531

Official·OMIM:606272 Official·ENSG00000040531

Encodes lysosomal cystine transporter. Mutations cause cystinosis.

Treatment Roadmap — CTNS

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Cystinosis

Autosomal RecessivePrevalence: 1/200000metabolic

Official·OMIM:219800 Official·ORPHA213

Summary

Clinical Trial

Approved Therapy

Registered Variant