Product Description

CTNS Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES17182-50, ES17182-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: 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],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human CTNS AA range: 234-284

Isotype: IgG

Target: CTNS

Specificity: This antibody detects endogenous levels of CTNS at Human/Mouse

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes (PubMed:22649030), Expressed at lower levels in placenta and heart, Weakly expressed in lung, liver and brain (adult and fetal) (PubMed:22649030),, [Isoform 2]: Represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions,

Molecular Weight (Da): 40kD

Fields: Lysosome

Function: Disease: Defects in CTNS are the cause of cystinosis [MIM: 219800, 219900, 219750]. This autosomal recessive disorder results from defective lysosomal transport of cystine. The classical nephropathic form is characterized by renal failure at 10 years of age and other systemic complications. Milder phenotype exist such as intermediate cystinosis, with later onset of renal disease and benign or non-nephropathic cystinosis, with symptoms related only to corneal crystals and photophobia
Function: Thought to transport cystine out of lysosomes
Similarity: Belongs to the cystinosin family
Similarity: Contains 2 PQ-loop domains
Tissue Specificity: Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal)

Subcellular Location: [Isoform 1]: Lysosome membrane, Multi-pass membrane protein Melanosome membrane, Multi-pass membrane protein AP-3 complex is required for localization to the lysosome, [Isoform 2]: Lysosome membrane, Multi-pass membrane protein Cell membrane, Multi-pass membrane protein

Storage and Stability: -20°C/1 year

Gene Name: CTNS

Protein Name: CTNS

Mouse Gene ID: 83429

Mouse SwissProt Number: P57757

Research Use Only