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CTNS

Gene

cystinosin, lysosomal cystine transporter

HGNCHGNC:2518EnsemblENSG00000040531NCBI Gene1497
Locus: gene with protein productLocation: 17p13.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asCTNS-LSB · PQLC4 · SLC66A4
View full nomenclature history (4)
Alias symbolsCTNS-LSB, PQLC4, SLC66A4
Previous namescystinosis, nephropathic

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Neurodegenerative Diseases
Nephrotic Syndrome
Autoimmune disorder of central nervous system

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Solute carrier family 66

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-14.
Open TargetsGene–disease associations from the Open Targets Platform.