ID/Version |
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Sequence description from provider |
RecName: Full=Cystinosin {ECO:0000303|PubMed:11121245};Flags: Precursor; | ||||||||||||||
Provider | SWISS-PROT | ||||||||||||||
Sequence |
Polypeptide
367
aa
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Source | |||||||||||||||
Annotated genes and markers |
Follow the symbol links to get more information on the GO terms,
expression assays, orthologs, phenotypic alleles, and other information
for the genes or markers below.
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Sequence references in MGI |
J:66375
Cherqui S, et al., Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. BMC Genomics. 2000;1(1):2
J:79610 Cherqui S, et al., Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol. 2002 Nov;22(21):7622-32 J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563 J:149574 Maurice T, et al., Cystine accumulation in the CNS results in severe age-related memory deficits. Neurobiol Aging. 2009 Jun;30(6):987-1000 J:179515 Simpson J, et al., Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol Vis. 2011;17:2212-20 J:244209 Chiaverini C, et al., Cystinosin is a melanosomal protein that regulates melanin synthesis. FASEB J. 2012 Sep;26(9):3779-89 J:246019 Zhang J, et al., Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A. J Biol Chem. 2017 Jun 23;292(25):10328-10346 J:302462 Andrzejewska Z, et al., Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling. J Am Soc Nephrol. 2016 Jun;27(6):1678-88 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/17/2024 MGI 6.24 |
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