CTNS
cystinosin, lysosomal cystine transporter
Synonyms:
CTNS-LSB, PQLC4
Species:
Human CTNS (1497), Mouse Ctns (83429), Rat Ctns (287478), Horse CTNS (100060554), sheep CTNS (101122533), domestic guinea pig Ctns (100731558), dog CTNS (491220), cow CTNS (613527), Zebrafish ctns (553594), chicken CTNS (417606) ...More
UniProtKB ID:
Gene ID:
- Human(1497) Summary: This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
- Mouse(83429) cystinosis, nephropathic
- Rat(287478) cystinosin, lysosomal cystine transporter
- Horse(100060554) cystinosin, lysosomal cystine transporter
- sheep(101122533) cystinosin, lysosomal cystine transporter
- domestic guinea pig(100731558) cystinosin, lysosomal cystine transporter
- dog(491220) cystinosin, lysosomal cystine transporter
- cow(613527) cystinosin, lysosomal cystine transporter
- Zebrafish(553594) cystinosis, nephropathic
- chicken(417606) cystinosin, lysosomal cystine transporter
- domestic cat(101092308) cystinosin, lysosomal cystine transporter
- naked mole-rat(101721174) cystinosin, lysosomal cystine transporter
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