Product Type: Antibody
Descritpion: 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.
Research Areas: Cancer, Metabolism, Neuroscience, Signal transduction
Recommended Dilutions: IHC 1:50-1:200
Size: 200 uL
Gene Accession: NP_000043
Immunogen: Synthetic peptide of human ATP7A
Formulation: PBS with 0.05% sodium azide, 50% glycerol, PH7.3
Purification: Affinity purification
Tissue Specificity/Positive Control: 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.
Cellular Localization: Endoplasmic reticulum; Cytoplasm>cytosol and Golgi apparatus>trans-Golgi network membrane. Cell membrane. 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.
Storage: Store at -20C. Avoid freeze / thaw cycles.