Anti-ATP7A Antibody Picoband® 31.0647 Vervoeging

ATP7A, also known as Menkes' protein (MNK), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu (I) across cell membranes. 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.

ATP7A; MC1; MNK; Copper-transporting ATPase 1; EC 7.2.2.8; Copper pump 1; Menkes disease-associated protein

ATP7A

538

Q04656

Human

No cross-reactivity with other proteins

A synthetic peptide corresponding to a sequence at the C-terminus of human ATP7A, which shares 79.2% amino acid (aa) sequence identity with both mouse and rat ATP7A.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Cecchi, C., Biasotto, M., Tosi, M., Avner, P. The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum. Molec. Genet. 6: 425-433, 1997. Note: Erratum: Hum. Molec. Genet. 6: 829 only, 1997. 2. Chelly, J., Tumer, Z., Tonnesen, T., Petterson, A., Ishikawa-Brush, Y., Tommerup, N., Horn, N., Monaco, A. P. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet. 3: 14-19, 1993. 3. Christodoulou, J., Danks, D. M., Sarkar, B., Baerlocher, K. E., Casey, R., Horn, N., Tumer, Z., Clarke, J. T. R. Early treatment of Menkes disease with parenteral cooper (sic) -histidine: long-term follow-up of four treated patients. Am. J. Med. Genet. 76: 154-164, 1998.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

163 kDa

6

ATPase copper transporting alpha

Copper-transporting ATPase 1

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.