O60931.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
45,039 Da
NCBI Official Full Name
Cystinosin
NCBI Official Synonym Full Names
cystinosin, lysosomal cystine transporter
NCBI Protein Information
cystinosin
UniProt Protein Name
Cystinosin
UniProt Entry Name
CTNS_HUMAN
NCBI Summary for CTNS
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]
UniProt Comments for CTNS
CTNS: Thought to transport cystine out of lysosomes. Defects in CTNS are the cause of cystinosis nephropathic type (CTNS). It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. Defects in CTNS are the cause of cystinosis adult non- nephropathic type (CTNSANN). It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benigne course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. Defects in CTNS are the cause of cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN). It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. Belongs to the cystinosin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 17p13
Cellular Component: early endosome; intermediate filament cytoskeleton; intracellular membrane-bound organelle; late endosome; lysosomal membrane; lysosome
Molecular Function: L-cystine transmembrane transporter activity
Biological Process: ATP metabolic process; brain development; cognition; glutathione metabolic process; ion transport; L-cystine transport; transmembrane transport
Disease: Cystinosis, Adult Nonnephropathic; Cystinosis, Late-onset Juvenile Or Adolescent Nephropathic Type; Cystinosis, Nephropathic
Research Articles on CTNS
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Pathways associated with CTNS blocking peptide
Diseases associated with CTNS blocking peptide
Organs/Tissues associated with CTNS blocking peptide
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