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ATPase, Cu++ Transporting Beta Polypeptide (ATP7b)

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PWD; WC1; WD; WND; Wilson Disease Protein; Copper pump 2; Wilson disease-associated protein

ATPase, Cu++ Transporting Beta Polypeptide (ATP7b)
CCC G386
HGNC 870
MGI 103297
PubMed 12557139
RGD 2180
UniProt P35670
Wiki ATP7b
ATP7b is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least two putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson's disease.ATP7B gene was 78% in the transduction region, 89% in the channel/phosphorylation regions, and 79% in the ATP-binding region. The predicted length of the gene product was 1,411 amino acids for ATP7B compared with 1,500 amino acids for MNK.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG386Hu01 Recombinant ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAG386Hu21 Monoclonal Antibody to ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) WB; IHC; ICC; IP.
PAG386Hu01 Polyclonal Antibody to ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) WB,IHC
Assay Kits SEG386Hu ELISA Kit for ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG386Mu01 Recombinant ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Positive Control; Immunogen; SDS-PAGE; WB.
RPG386Mu02 Recombinant ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAG386Mu01 Polyclonal Antibody to ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) WB; IHC; ICC; IP.
PAG386Mu02 Polyclonal Antibody to ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) WB; IHC; ICC; IP.
Assay Kits SEG386Mu ELISA Kit for ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase, Cu++ Transporting Beta Polypeptide (ATP7b) ELISA Kit Customized Service Offer
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  8. ErratumNat. Genet. 9:451-451(1995)
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  32. "A study of Wilson disease mutations in Britain."Hum. Mutat. 14:304-311(1999) [PubMed] [Europe PMC] [Abstract]
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  42. "High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis."J. Hepatol. 35:575-581(2001) [PubMed] [Europe PMC] [Abstract]
  43. "Molecular diagnosis of Wilson disease."Mol. Genet. Metab. 72:223-230(2001) [PubMed] [Europe PMC] [Abstract]
  44. "Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene."Eur. J. Pediatr. 161:124-126(2002) [PubMed] [Europe PMC] [Abstract]
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  46. "Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B."Hum. Mutat. 20:260-266(2002) [PubMed] [Europe PMC] [Abstract]
  47. "Two families with Wilson disease in which siblings showed different phenotypes."J. Hum. Genet. 47:543-547(2002) [PubMed] [Europe PMC] [Abstract]
  48. "Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease."Clin. Genet. 64:479-484(2003) [PubMed] [Europe PMC] [Abstract]
  49. "A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease."Eur. Neurol. 51:52-54(2004) [PubMed] [Europe PMC] [Abstract]
  50. "Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients."Hum. Mutat. 23:398-398(2004) [PubMed] [Europe PMC] [Abstract]
  51. "Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation."Neurology 63:1982-1983(2004) [PubMed] [Europe PMC] [Abstract]
  52. "Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease."World J. Gastroenterol. 10:590-593(2004) [PubMed] [Europe PMC] [Abstract]
  53. "Wilson disease: high prevalence in a mountainous area of Crete."Ann. Hum. Genet. 69:268-274(2005) [PubMed] [Europe PMC] [Abstract]
  54. "Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype."Clin. Genet. 67:443-445(2005) [PubMed] [Europe PMC] [Abstract]
  55. "Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene."Clin. Genet. 68:61-68(2005) [PubMed] [Europe PMC] [Abstract]
  56. "Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population."Clin. Genet. 68:474-476(2005) [PubMed] [Europe PMC] [Abstract]
  57. "Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease."Clin. Genet. 68:524-532(2005) [PubMed] [Europe PMC] [Abstract]
  58. "Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry."Hum. Mutat. 26:280-280(2005) [PubMed] [Europe PMC] [Abstract]
  59. "Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease."Mol. Genet. Metab. 86:277-285(2005) [PubMed] [Europe PMC] [Abstract]
  60. "Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease."Clin. Genet. 72:264-267(2007) [PubMed] [Europe PMC] [Abstract]
  61. "New mutations in the Wilson disease gene, ATP7B: implications for molecular testing."Genet. Test. 12:139-145(2008) [PubMed] [Europe PMC] [Abstract]
  62. "Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system."Hum. Mutat. 29:491-501(2008) [PubMed] [Europe PMC] [Abstract]
  63. "Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients."BMC Pediatr. 11:56-56(2011) [PubMed] [Europe PMC] [Abstract]
  64. "Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice."World J. Hepatol. 5:649-653(2013) [PubMed] [Europe PMC] [Abstract]