CTNS (gene)


CTNS (gene)
Cystinosin, lysosomal cystine transporter
Identifiers
Symbols CTNS; CTNS-LSB; PQLC4
External IDs OMIM606272 MGI1932872 HomoloGene3625 GeneCards: CTNS Gene
RNA expression pattern
PBB GE CTNS 36566 at tn.png
PBB GE CTNS 204925 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1497 83429
Ensembl ENSG00000040531 ENSMUSG00000005949
UniProt O60931 Q3TC99
RefSeq (mRNA) NM_001031681.2 NM_031251.4
RefSeq (protein) NP_001026851.2 NP_112541.1
Location (UCSC) Chr 17:
3.54 – 3.56 Mb
Chr 11:
73 – 73.01 Mb
PubMed search [1] [2]

Cystinosin is a protein that in humans is encoded by the CTNS gene.[1][2]


Contents

See also

References

  1. ^ 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. 
  2. ^ "Entrez Gene: CTNS cystinosis, nephropathic". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1497. 

Further reading

External links



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