NP_112541.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
cystinosin
NCBI Official Synonym Full Names
cystinosis, nephropathic
NCBI Protein Information
cystinosin
UniProt Protein Name
Cystinosin
UniProt Entry Name
CTNS_MOUSE
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
Cellular Component: intermediate filament cytoskeleton; intracellular membrane-bound organelle; membrane; lysosomal membrane; lysosome; late endosome; plasma membrane; integral to membrane
Molecular Function: L-cystine transmembrane transporter activity
Biological Process: ATP metabolic process; melanin biosynthetic process; grooming behavior; lens development in camera-type eye; glutathione metabolic process; long-term memory; transport; L-cystine transport; visual learning; brain development; cognition; adult walking behavior
Research Articles on Ctns
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Pathways associated with Ctns recombinant protein
Diseases associated with Ctns recombinant protein
Organs/Tissues associated with Ctns recombinant protein
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