CTNS, Polyclonal Antibody

Cystinosin; CTNS

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This CTNS antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 341-367 amino acids from the C-terminal region of human CTNS.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-CTNS antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Metabolism; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

CTNS Antibody (C-term) western blot analysis in HepG2 cell line lysates (35ug/lane).This demonstrates the CTNS antibody detected the CTNS protein (arrow).

41738

cystinosin, lysosomal cystine transporter

cystinosin

Cystinosin

CTNS_HUMAN

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]

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 ***** 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 ***** 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, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 17p13

Cellular Component: intermediate filament cytoskeleton; intracellular membrane-bound organelle; lysosome; lysosomal membrane; late endosome; early endosome; integral to membrane; plasma membrane; melanosome

Molecular Function: L-cystine transmembrane transporter activity

Biological Process: ATP metabolic process; melanin biosynthetic process; lens development in camera-type eye; grooming behavior; amino acid metabolic process; glutathione metabolic process; long-term memory; L-cystine transport; visual learning; brain development; cognition; ***** walking behavior

Disease: Cystinosis, Adult Nonnephropathic; Cystinosis, Late-onset Juvenile Or Adolescent Nephropathic Type; Cystinosis, Nephropathic

Taranta, A., et al. Pediatr. Nephrol. 25(7):1263-1267(2010)
Bellomo, F., et al. Free Radic. Biol. Med. 48(7):865-872(2010)
Kumar, A., et al. J. Biosci. 35(1):21-25(2010)
Aldahmesh, M.A., et al. Ophthalmic Genet. 30(4):185-189(2009)
Macias-Vidal, J., et al. Clin. Genet. 76(5):486-489(2009)

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