CTNS (gene)

CTNS
Identifiers
Aliases CTNS, CTNS-LSB, PQLC4, cystinosin, lysosomal cystine transporter
External IDs MGI: 1932872 HomoloGene: 3625 GeneCards: CTNS
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

1497

83429

Ensembl

ENSG00000040531

ENSMUSG00000005949

UniProt

O60931

P57757

RefSeq (mRNA)

NM_001031681
NM_004937

NM_031251

RefSeq (protein)

NP_001026851.2
NP_004928.2

NP_112541.1

Location (UCSC) Chr 17: 3.64 – 3.66 Mb Chr 11: 73.18 – 73.2 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Cystinosin is a protein that in humans is encoded by the CTNS gene.[3][4]

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C (Apr 1998). "A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis". Nat Genet. 18 (4): 319–24. doi:10.1038/ng0498-319. PMID 9537412.
  4. "Entrez Gene: CTNS cystinosis, nephropathic".

Further reading

External links


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