Rabbit anti-Human CTNS Polyclonal Antibody | anti-CTNS antibody

CTNS, CT (CTNS, Cystinosin) (MaxLight 490)

Cat. Num. AAA6289853

• Gene Names: CTNS; PQLC4; CTNS-LSB
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A and Peptide Affinity Chromatography.
• Synonyms: CTNS; Polyclonal Antibody; CT (CTNS; Cystinosin) (MaxLight 490); Cystinosin; anti-CTNS antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human CTNS.
• Purity/Purification: Purified by Protein A and Peptide Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight490.

• Applicable Applications for anti-CTNS antibody: Western Blot (WB), FLISA
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 341-367 in the C-terminal region of human CTNS, UniProt Accession #NP_004928.2; O60931.
• Conjugate: MaxLight490
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight490 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western Blot analysis in HepG2 cell line lysates (35ug/lane) usingMBS6007321. This demonstrates that MBS6007321 detected the CTNS protein (arrow).)

Related Product Information for anti-CTNS antibody

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.

Product Categories/Family for anti-CTNS antibody

Antibodies; Proteins

References

1. Taranta, A., et al. Pediatr. Nephrol. 25(7):1263-1267(2010). 2. Bellomo, F., et al. Free Radic. Biol. Med. 48(7):865-872(2010). 3. Kumar, A., et al. J. Biosci. 35(1):21-25(2010). 4. Aldahmesh, M.A., et al. Ophthalmic Genet. 30(4):185-189(2009). 5. Macias-Vidal, J., et al. Clin. Genet. 76(5):486-489(2009).

NCBI and Uniprot Product Information

• NCBI GI #: 119943110
• NCBI GeneID: 1497
• NCBI Accession #: NP_004928.2
• NCBI GenBank Nucleotide #: NM_004937.2
• UniProt Accession #: O60931; Q8IZ01; Q9UNK6; D3DTJ5
• Molecular Weight: 45,039 Da
• NCBI Official Full Name: cystinosin isoform 2
• NCBI Official Synonym Full Names: cystinosin, lysosomal cystine transporter
• NCBI Official Symbol: CTNS
• NCBI Official Synonym Symbols: PQLC4; CTNS-LSB
• NCBI Protein Information: cystinosin
• UniProt Protein Name: Cystinosin
• Protein Family: Cystinosin
• UniProt Gene Name: CTNS
• UniProt Entry Name: CTNS_HUMAN

NCBI Description

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 Description

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, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 17p13

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

Molecular Function: L-cystine transmembrane transporter activity

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

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