AlphaFold predicted structure
CTNS · O60931
Mean pLDDT
89.4/ 100
Confident
367 residues
Confidence breakdown
- Very high(≥ 90)75%
- Confident(70–90)16%
- Low(50–70)4%
- Very low(< 50)6%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CTNS
Chr 17p13.2cystinosin, lysosomal cystine transporter
- Aliases:
- CTNS-LSB, PQLC4, SLC66A4
- MANE:
- ENST00000046640.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cystinosis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomalRenal tubulopathies
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalUnexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
+2 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
nephropathic cystinosis
0.84cystinosis
0.81juvenile nephropathic cystinosis
0.81ocular cystinosis
0.79nephropathic infantile cystinosis
0.74hereditary disease
0.56neurodegenerative disease
0.27nephrotic syndrome
0.26autoimmune disorder of central nervous system
0.19familial glucocorticoid deficiency
0.16
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cystinosin
Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:15128704, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:36113465). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (PubMed:36113465). Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity)
Diseases associated with CTNS
Curated MONDO disease pages that list CTNS among their top associated genes.