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Lysosomal Cystine Transporter
- Molecular classification
- Transporter, Lysosomal membrane protein, TOG superfamily, LCT family
01
Overview
The lysosomal cystine transporter, primarily cystinosin encoded by the CTNS gene, is a membrane protein located in the lysosomal membrane. Its primary function is to export cystine from the lysosome into the cytosol using a proton gradient. This transport is crucial for amino acid recycling, maintaining mTOR signaling, and regulating autophagy. Mutations in CTNS cause cystinosis, a lysosomal storage disorder characterized by cystine accumulation.
- Other names
- CystinosinCTNS protein
02
Biological functions
Amino acid recyclingCystine transportmTOR signaling regulationAutophagy regulationLysosomal homeostasis
03
Disease associations
CystinosisLysosomal storage disorder
04
Safety considerations
Potential for off-target effects if modulating activityComplex regulation of autophagy and mTOR signaling
05
Biomarkers
Cystine levels (cellular, lysosomal)CTNS gene mutations
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