ITT0411
ITT0411
- Catalog: ITT0411
- Gene/Protein: ATP7A
- Product Description: Immunotag™ ATP7A Polyclonal Antibody
385.0000
Price in reward points: 385
| Antibody Specification | |
| Datasheet | 
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| Target Protein | ATP7A |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | IHC-p,ELISA |
| Recommended Dilution | Immunohistochemistry: 1/100 - 1/300. ELISA: 1/40000. Not yet tested in other applications. |
| Concentration | 1 mg/ml |
| Reactive Species | Human,Mouse,Rat |
| Host Species | Rabbit |
| Immunogen | Synthesized peptide derived from the Internal region of human ATP7A |
| Specificity | ATP7A Polyclonal Antibody detects endogenous levels of ATP7A protein. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Gene Name | ATP7A |
| Accession No. | Q04656 Q64430 P70705 |
| Alternate Names | ATP7A; MC1; MNK; Copper-transporting ATPase 1; Copper pump 1; Menkes disease-associated protein |
| Description | ATPase copper transporting alpha(ATP7A) Homo sapiens This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013], |
| Cell Pathway/ Category | Angiogenesis, MAPK |
| Protein Expression | Brain,Colon carcinoma,Endothelial cell,Fibroblast,Kidney,Neuroblastoma, |
| Subcellular Localization | late endosome,endoplasmic reticulum,Golgi apparatus,trans-Golgi network,cytosol,plasma membrane,integral component of plasma membrane,membrane,integral component of membrane,basolateral plasma membrane,trans-Golgi network transport |
| Protein Function | catalytic activity:ATP + H(2)O + Cu(2+)(In) = ADP + phosphate + Cu(2+)(Out).,disease:Defects in ATP7A are the cause of Menkes disease (MNKD) [MIM:309400]; also known as kinky hair disease. MNKD is an X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes.,disease:Defects in ATP7A are the cause of occipital horn syndrome (OHS) [MIM:304150]; also known as X-linked cutis laxa. OHS is an X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga.,domain:The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane.,function:May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.,online information:Heavy metal - Issue 79 of February 2007,similarity:Belongs to the cation transport ATPase (P-type) family. Type IB subfamily.,similarity:Contains 6 HMA domains.,subcellular location:Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane. Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels.,subunit:Monomer.,tissue specificity:Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
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