ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a)
[Edit]MK; MNK; MC1; Menkes Syndrome; Copper pump 1; Copper-transporting ATPase 1; Menkes disease-associated protein
ATP7A provides instructions to make a protein that is important for regulating copper levels in the body. This protein is found in most tissues, but it is absent from the liver. In the small intestine, the ATP7A protein helps control the absorption of copper from food. In other organs and tissues, the ATP7A protein has a dual role and shuttles between two locations within the cell. The protein normally resides in a cell structure called the Golgi apparatus, which modifies and transports newly produced enzymes and other proteins. Here, the ATP7A protein supplies copper to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system. If copper levels in the cell environment are elevated, however, the ATP7A protein moves to the cell membrane and eliminates excess copper from the cell.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPG385Hu01 | Recombinant ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | n/a | Monoclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPG385Mu01 | Recombinant ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | n/a | Monoclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for ATPase, Cu++ Transporting Alpha Polypeptide (ATP7a) | ELISA Kit Customized Service Offer |
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- ErratumNat. Genet. 3:273-273(1993)
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- "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
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- "A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family."Am. J. Hum. Genet. 61:233-238(1997) [PubMed] [Europe PMC] [Abstract]
- "Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease."Hum. Mol. Genet. 8:1547-1555(1999) [PubMed] [Europe PMC] [Abstract]
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- "A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease."Am. J. Hum. Genet. 69:420-427(2001) [PubMed] [Europe PMC] [Abstract]
- "ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome."Am. J. Med. Genet. 99:217-222(2001) [PubMed] [Europe PMC] [Abstract]
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- "Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A."Hum. Mutat. 26:84-93(2005) [PubMed] [Europe PMC] [Abstract]
- "Functional copper transport explains neurologic sparing in occipital horn syndrome."Genet. Med. 8:711-718(2006) [PubMed] [Europe PMC] [Abstract]
- "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy." Am. J. Hum. Genet. 86:343-352(2010) [PubMed] [Europe PMC] [Abstract]
- "The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation."BMC Pediatr. 12:150-150(2012) [PubMed] [Europe PMC] [Abstract]