ATP7B

Summary

Gene Symbol: ATP7B
Description: ATPase copper transporting beta
Alias: PWD, WC1, WND, copper-transporting ATPase 2, ATPase, Cu(2+)- transporting, beta polypeptide, ATPase, Cu++ transporting, beta polypeptide, Wilson disease-associated protein, copper pump 2
Species: human
Products:     ATP7B

Top Publications

  1. Yamaguchi Y, Heiny M, Gitlin J. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun. 1993;197:271-7 pubmed
    ..These data suggest that this cDNA is a candidate gene for Wilson disease and that the protein encoded at this locus is a member of the P-type ATPase family...
  2. Bull P, Thomas G, Rommens J, Forbes J, Cox D. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993;5:327-37 pubmed
    ..We show that this sequence forms part of a P-type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy ..
  3. Wu Z, Wang N, Lin M, Fang L, Murong S, Yu L. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. Arch Neurol. 2001;58:971-6 pubmed
    The defective gene (ATP7B) that causes Wilson disease (WD) codes for a putative copper-transporting P-type adenosine triphosphatase...
  4. Payne A, Kelly E, Gitlin J. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc Natl Acad Sci U S A. 1998;95:10854-9 pubmed
  5. Margarit E, Bach V, Gomez D, Bruguera M, Jara P, Queralt R, et al. Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet. 2005;68:61-8 pubmed
    ..More than 200 mutations in the ATP7B gene causing this autosomal recessive defect have been reported...
  6. Simsek Papur O, Akman S, Cakmur R, Terzioglu O. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. Eur J Med Genet. 2013;56:175-9 pubmed publisher
    Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene that encodes a P-type copper transporting ATPase...
  7. Caca K, Ferenci P, Kuhn H, Polli C, Willgerodt H, Kunath B, et al. 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. 2001;35:575-81 pubmed
    Wilson disease is caused by a large number of different mutations in the ATP7B gene. Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations...
  8. Hardman B, Manuelpillai U, Wallace E, van de Waasenburg S, Cater M, Mercer J, et al. Expression and localization of menkes and Wilson copper transporting ATPases in human placenta. Placenta. 2004;25:512-7 pubmed
    ..Two copper transporting ATPases, Menkes (ATP7A; MNK) and Wilson (ATP7B; WND) are known to be expressed in the placenta and are thought to have a role in copper transport to the fetus...
  9. Hardman B, Michalczyk A, Greenough M, Camakaris J, Mercer J, Ackland M. Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells. Biochem J. 2007;402:241-50 pubmed
    ..Two copper-transporting ATPases, Menkes (ATP7A; MNK) and Wilson (ATP7B; WND), are expressed in the placenta and both are involved in placental copper transport, as copper accumulates in ..

More Information

Publications64

  1. De Bie P, Muller P, Wijmenga C, Klomp L. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007;44:673-88 pubmed
    ..Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes ..
  2. Hsi G, Cullen L, Macintyre G, Chen M, Glerum D, Cox D. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Hum Mutat. 2008;29:491-501 pubmed publisher
    b>ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND)...
  3. Banci L, Bertini I, Cantini F, Rosenzweig A, Yatsunyk L. Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1. Biochemistry. 2008;47:7423-9 pubmed publisher
    The Wilson disease protein or ATP7B is a P 1B-type ATPase involved in human copper homeostasis. The extended N-terminus of ATP7B protrudes into the cytosol and contains six Cu(I) binding domains...
  4. Petrukhin K, Fischer S, Pirastu M, Tanzi R, Chernov I, Devoto M, et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet. 1993;5:338-43 pubmed
    ..Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations. ..
  5. Kenney S, Cox D. Sequence variation database for the Wilson disease copper transporter, ATP7B. Hum Mutat. 2007;28:1171-7 pubmed
    ..This report describes the database we have developed for reporting of mutations in ATP7B, the gene defective in WND...
  6. Park S, Park J, Kim G, Choi J, Kim K, Kim J, et al. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat. 2007;28:1108-13 pubmed
    ..Hepatic cirrhosis and neuronal degeneration are the major symptoms of WND, and mutations in the ATP7B gene are associated with WND...
  7. Lutsenko S, LeShane E, Shinde U. Biochemical basis of regulation of human copper-transporting ATPases. Arch Biochem Biophys. 2007;463:134-48 pubmed
    ..and plasma membrane-bound proteins requires activity of the copper-transporting ATPases (Cu-ATPases) ATP7A and ATP7B. The Cu-ATPases also export excess copper from the cell and thus critically contribute to the homeostatic control ..
  8. Gromadzka G, Schmidt H, Genschel J, Bochow B, Rodo M, Tarnacka B, et al. 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. 2005;68:524-32 pubmed
    ..It is proposed that this variation may be a result of differential functional disruption of ATPase7B (ATP7B) resulting from mutations in the gene ATP7B...
  9. Barada K, El Atrache M, El Hajj I, Rida K, El Hajjar J, Mahfoud Z, et al. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease. J Clin Gastroenterol. 2010;44:432-9 pubmed publisher
    ..Mutation analysis of the ATP7B gene, and clinical assessments were carried out for both families...
  10. Keandaungjuntr J, Busabaratana M, Kositchaiwat C, Sura T, Pulkes T. Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease. J Med Assoc Thai. 2011;94:1184-8 pubmed
    Determine the frequency of mutations in exon 8 of ATP7B gene. The exon 8 of ATP7B gene in twenty 20 unrelated Thai patients with Wilson disease (WD) was analyzed Three heterozygous mutations were identified in four patients...
  11. Deguti M, Genschel J, Cancado E, Barbosa E, Bochow B, Mucenic M, et al. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat. 2004;23:398 pubmed
    ..The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subjects belonging to 46 pedigrees diagnosed as WD were included in this study...
  12. Loudianos G, Kostic V, Solinas P, Lovicu M, Dessi V, Svetel M, et al. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genet Test. 2003;7:107-12 pubmed
    ..disorder of copper metabolism resulting from the absence or dysfunction of a copper transporting P-type ATPase (ATP7B). Approximately 150 mutations of the ATP7B have been identified to date...
  13. Yoo H. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Genet Med. 2002;4:43S-48S pubmed
    ..The product of the Wilson disease gene is a copper transporting P-type ATPase (ATP7B)...
  14. Thomas G, Roberts E, Walshe J, Cox D. Haplotypes and mutations in Wilson disease. Am J Hum Genet. 1995;56:1315-9 pubmed
    ..The use of the haplotypes that we have identified provides an important guide for the identification of known mutations and can facilitate future mutation searches. ..
  15. Thomas G, Forbes J, Roberts E, Walshe J, Cox D. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9:210-7 pubmed
    We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease...
  16. Shah A, Chernov I, Zhang H, Ross B, Das K, Lutsenko S, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet. 1997;61:317-28 pubmed
    ..On the basis of sequence homology to known genes, the WD gene (ATP7B) appears to be a copper-transporting P-type ATPase...
  17. Kalinsky H, Funes A, Zeldin A, Pel Or Y, Korostishevsky M, Gershoni Baruch R, et al. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat. 1998;11:145-51 pubmed
    ..Eighteen unique haplotypes were derived from allelic combinations for four marker loci spanning the WD gene, ATP7B, at chromosome 13q14.3: D13S133, D13S296, D13S301 and D13S295...
  18. Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat. 2000;15:454-62 pubmed
    The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified...
  19. Butler P, McIntyre N, Mistry P. Molecular diagnosis of Wilson disease. Mol Genet Metab. 2001;72:223-30 pubmed
    Wilson disease (WD) is caused by mutations in the ATP7B gene. The diagnosis is based on clinical and biochemical criteria but these are increasingly recognized to have low sensitivity...
  20. Achila D, Banci L, Bertini I, Bunce J, Ciofi Baffoni S, Huffman D. Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptake. Proc Natl Acad Sci U S A. 2006;103:5729-34 pubmed
    ..Therefore, we suggest that WLN4 and WLN2 are two acceptors of Cu(I) from HAH1, which then somehow route copper to WLN5-6, before the ATP-driven transport of copper across the vesicular membrane. ..
  21. Yang X, Miura N, Kawarada Y, Terada K, Petrukhin K, Gilliam T, et al. Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments. Biochem J. 1997;326 ( Pt 3):897-902 pubmed
    ..Recently a gene for Wilson disease (WD)(also named the ATP7B gene) was cloned. This gene encodes a copper transporter of the P-type ATPase...
  22. Ye S, Gong L, Shui Q, Zhou L. Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol. 2007;13:5147-50 pubmed
    To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics...
  23. Abdelghaffar T, Elsayed S, Elsobky E, Bochow B, Büttner J, Schmidt H. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. J Hum Genet. 2008;53:681-7 pubmed publisher
    The aim of this work was to study the mutations within ATP7B in Egyptian children with Wilson disease and to evaluate any potential correlation between genotype and phenotype in this cohort...
  24. Vanderwerf S, Cooper M, Stetsenko I, Lutsenko S. Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase. J Biol Chem. 2001;276:36289-94 pubmed
    ..The novel physiological role of copper as a modulator of protein phosphorylation could be central to understanding how copper transport is regulated in mammalian cells. ..
  25. Firneisz G, Lakatos P, Szalay F, Polli C, Glant T, Ferenci P. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Med Genet. 2002;108:23-8 pubmed
    Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The H1069Q mutation in exon 14 of ATP7B is far the most frequent in Wilson patients of European origin...
  26. La Fontaine S, Mercer J. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch Biochem Biophys. 2007;463:149-67 pubmed
    ..The copper-transporting P-type ATPases, ATP7A and ATP7B are key molecules required for the regulation and maintenance of mammalian copper homeostasis...
  27. Banci L, Bertini I, Cantini F, Migliardi M, Natile G, Nushi F, et al. Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins. Biochemistry. 2009;48:7849-55 pubmed publisher
    ATP7A and ATP7B are two human P(1B)-type ATPases that have a crucial role in maintaining copper(I) homeostasis...
  28. Tsivkovskii R, Efremov R, Lutsenko S. The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B. J Biol Chem. 2003;278:13302-8 pubmed
    The copper-transporting ATPase ATP7B is essential for normal distribution of copper in human cells. Mutations in ATP7B lead to Wilson's disease, a severe disorder with neurological and hepatic manifestations...
  29. Huster D, Hoppert M, Lutsenko S, Zinke J, Lehmann C, Mossner J, et al. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. Gastroenterology. 2003;124:335-45 pubmed
    Wilson's disease, a hereditary disorder caused by mutations in the Wilson's disease gene (ATP7B), leads to hepatic and/or neurological pathology resulting from cellular copper overload...
  30. Lee C, Wu J, Tsai F, Kodama H, Abe T, Yang C, et al. Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. J Hum Genet. 2000;45:275-9 pubmed
    Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease...
  31. Morgan C, Tsivkovskii R, Kosinsky Y, Efremov R, Lutsenko S. The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. J Biol Chem. 2004;279:36363-71 pubmed
    Copper transport by the P(1)-ATPase ATP7B, or Wilson disease protein (WNDP),1 is essential for human metabolism. Perturbation of WNDP function causes intracellular copper accumulation and severe pathology, known as Wilson disease (WD)...
  32. Dmitriev O, Bhattacharjee A, Nokhrin S, Uhlemann E, Lutsenko S. Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B. J Biol Chem. 2011;286:16355-62 pubmed publisher
    Wilson disease (WD) is a disorder of copper metabolism caused by mutations in the Cu-transporting ATPase ATP7B. WD is characterized by significant phenotypic variability, the molecular basis of which is poorly understood...
  33. Petrukhin K, Lutsenko S, Chernov I, Ross B, Kaplan J, Gilliam T. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet. 1994;3:1647-56 pubmed
    ..A candidate gene for WD (ATP7B) has recently been identified based upon apparent disease-specific mutations and a striking amino acid homology to ..
  34. Niemiec M, Weise C, Wittung Stafshede P. In vitro thermodynamic dissection of human copper transfer from chaperone to target protein. PLoS ONE. 2012;7:e36102 pubmed publisher
    ..Thus, small variations in interaction energies, not always obvious upon comparing protein structures alone, may fuel vectorial metal transfer. ..
  35. LeShane E, Shinde U, Walker J, Barry A, Blackburn N, Ralle M, et al. Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B. J Biol Chem. 2010;285:6327-36 pubmed publisher
    Copper-transporting ATPase ATP7B is essential for human copper homeostasis and normal liver function. ATP7B has six N-terminal metal-binding domains (MBDs) that sense cytosolic copper levels and regulate ATP7B...
  36. Hofer H, Willheim Polli C, Knoflach P, Gabriel C, Vogel W, Trauner M, et al. Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. J Hum Genet. 2012;57:564-7 pubmed publisher
    Wilson disease (WD), a disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase. In the present study we describe a novel mutation in exon 9 of the ATP7B gene...
  37. Banci L, Bertini I, Cantini F, Massagni C, Migliardi M, Rosato A. An NMR study of the interaction of the N-terminal cytoplasmic tail of the Wilson disease protein with copper(I)-HAH1. J Biol Chem. 2009;284:9354-60 pubmed publisher
    b>ATP7B is a human P(1B)-type ATPase that has a crucial role in maintaining copper(I) homeostasis. Mutations in the corresponding gene are the cause of Wilson disease...
  38. Wan L, Tsai C, Hsu C, Huang C, Yang C, Liao C, et al. Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. Hepatology. 2010;52:1662-70 pubmed publisher
    Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a copper-transporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan...
  39. Rodriguez Granillo A, Sedlak E, Wittung Stafshede P. Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation. J Mol Biol. 2008;383:1097-111 pubmed publisher
    Perturbation of the human copper-transporter Wilson disease protein (ATP7B) causes intracellular copper accumulation and severe pathology, known as Wilson disease (WD)...
  40. Tsai C, Tsai F, Wu J, Chang J, Lee C, Lin S, et al. Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat. 1998;12:370-6 pubmed
    ..Using an RNA transcriptional assay, we confirmed that both of our detected splice-site mutations resulted in exon skipping. ..
  41. Dastsooz H, Dehghani S, Imanieh M, Haghighat M, Moini M, Fardaei M. A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. Gene. 2013;514:48-53 pubmed publisher
    Wilson disease is associated with a defect in copper metabolism and caused by different mutations in ATP7B gene...
  42. Barada K, Nemer G, Elhajj I, Touma J, Cortas N, Boustany R, et al. Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. Clin Genet. 2007;72:264-7 pubmed
  43. Yatsunyk L, Rosenzweig A. Cu(I) binding and transfer by the N terminus of the Wilson disease protein. J Biol Chem. 2007;282:8622-31 pubmed
    Wilson and Menkes diseases are genetic disorders of copper metabolism caused by mutations in the Wilson (WND) and Menkes (MNK) copper-transporting P1B-type ATPases...
  44. Curtis D, Durkie M, Balac Morris P, Sheard D, Goodeve A, Peake I, et al. A study of Wilson disease mutations in Britain. Hum Mutat. 1999;14:304-11 pubmed
    ..The disease is caused by a large number of mutations in the ATP7B gene, some of which appear to be population specific, whereas others are found in probands from a variety of ..
  45. Dmitriev O, Tsivkovskii R, Abildgaard F, Morgan C, Markley J, Lutsenko S. Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations. Proc Natl Acad Sci U S A. 2006;103:5302-7 pubmed
    Wilson disease protein (ATP7B) is a copper-transporting P(1B)-type ATPase that regulates copper homeostasis and biosynthesis of copper-containing enzymes in human tissues...
  46. Stapelbroek J, Bollen C, van Amstel J, van Erpecum K, van Hattum J, van den Berg L, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol. 2004;41:758-63 pubmed
    Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease...
  47. Tsivkovskii R, MacArthur B, Lutsenko S. The Lys1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner. J Biol Chem. 2001;276:2234-42 pubmed
    ..Significantly, the effects of copper-free and copper-bound N-WNDP on ATP-BD are not identical. The implications of these results for the WNDP function are discussed. ..
  48. Gu Y, Kodama H, Du S, Gu Q, Sun H, Ushijima H. 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. 2003;64:479-84 pubmed
    ..The disease is caused by a large number of mutations in the ATP7B gene comprising 21 expressed exons...
  49. Vanderwerf S, Lutsenko S. The Wilson's disease protein expressed in Sf9 cells is phosphorylated. Biochem Soc Trans. 2002;30:739-41 pubmed
    ..The identification of phosphorylation sites is the first step towards understanding the physiological role of WNDP phosphorylation. ..
  50. Tanzi R, Petrukhin K, Chernov I, Pellequer J, Wasco W, Ross B, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993;5:344-50 pubmed
    ..3. Here we describe a partial cDNA clone (pWD) which maps to this region and shows a particular 76% amino acid homology to the Menkes disease gene, Mc1...
  51. Kim E, Yoo O, Song K, Yoo H, Choi S, Cho S, et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat. 1998;11:275-8 pubmed
    Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease...
  52. Vrabelova S, Letocha O, Borsky M, Kozak L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab. 2005;86:277-85 pubmed
    ..The disease is caused by mutations in the ATP7B gene...
  53. Liu X, Zhang Y, Liu T, Hsiao K, Zhang J, Gu X, et al. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol. 2004;10:590-3 pubmed
    To determine the mutational characterization of P-type ATP7B gene and to explore the correlation of ATP7B genotype to phenotype in Chinese patients with Wilson disease (WD)...
  54. Wernimont A, Yatsunyk L, Rosenzweig A. Binding of copper(I) by the Wilson disease protein and its copper chaperone. J Biol Chem. 2004;279:12269-76 pubmed
    The Wilson disease protein (WND) is a transport ATPase involved in copper delivery to the secretory pathway. Mutations in WND and its homolog, the Menkes protein, lead to genetic disorders of copper metabolism...
  55. Hasan N, Gupta A, Polishchuk E, Yu C, Polishchuk R, Dmitriev O, et al. Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-Golgi network. J Biol Chem. 2012;287:36041-50 pubmed publisher
    The copper-transporting ATPase ATP7B has a dual intracellular localization: the trans-Golgi network (TGN) and cytosolic vesicles...