Aliases: CTNS-LSB, PQLC4, SLC66A4.
CTNS (cystinosin, lysosomal cystine transporter) is named by 1 disorder entry.
CTNS encodes cystinosin, the proton-coupled transporter that exports cystine from lysosomes to the cytosol. The pinned ai-gene-review snapshot has no core functions for CTNS yet (0 terms); an upstream review is being added.
Cystinosis types CTNS as causative, with the variants recorded as germline, and ClinGen rates the pair definitive. The gene sits on the node CTNS lysosomal cystine transporter deficiency, annotated with L-cystine transmembrane transport from lysosomal lumen to cytosol; L-cystine transport; and intracellular cysteine homeostasis.
ClinGen classifies CTNS for 1 disease, and every dismech entry matched to it types the gene (0 untyped).
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Cystinosis |
causative
germline
CLINGEN: definitive
|
mechanism: CTNS lysosomal cystine transporter deficiency
subtype: Nephropathic infantile cystinosis; Nephropathic juvenile cystinosis; Non-nephropathic ocular cystinosis
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| cystinosis MONDO:0016239 | AR | Definitive 2022-03-02 |
Cystinosis
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.