NameCopper-transporting ATPase 2
Synonyms
  • 3.6.3.54
  • Copper pump 2
  • PWD
  • WC1
  • Wilson disease-associated protein
  • WND
Gene NameATP7B
OrganismHuman
Amino acid sequence
>lcl|BSEQ0007042|Copper-transporting ATPase 2
MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATS
TVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMG
FEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN
QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSAN
QNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVK
YDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST
TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM
GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQ
STRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL
EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALA
TSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVF
GIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK
SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWL
EHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP
VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIV
KLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKH
ISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHK
IKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK
EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAV
PQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQ
EAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK
KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR
IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPD
LERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR
HSAAADDDGDKWSLLLNGRDEEQYI
Number of residues1465
Molecular Weight157261.34
Theoretical pI6.69
GO Classification
Functions
  • copper-exporting ATPase activity
  • ATP binding
  • copper ion binding
Processes
  • transmembrane transport
  • ion transmembrane transport
  • response to copper ion
  • sequestering of calcium ion
  • cellular copper ion homeostasis
  • cellular zinc ion homeostasis
  • copper ion export
  • copper ion import
  • intracellular copper ion transport
  • lactation
  • copper ion transport
Components
  • integral component of plasma membrane
  • Golgi membrane
  • late endosome
  • trans-Golgi network
  • mitochondrion
  • membrane
General FunctionCopper-exporting atpase activity
Specific FunctionInvolved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.
Pfam Domain Function
Transmembrane Regions654-675 698-717 725-745 765-785 920-942 973-994 1323-1340 1352-1371
GenBank Protein ID551502
UniProtKB IDP35670
UniProtKB Entry NameATP7B_HUMAN
Cellular LocationGolgi apparatus
Gene sequence
>lcl|BSEQ0012547|Copper-transporting ATPase 2 (ATP7B)
ATGCCTGAGCAGGAGAGACAGATCACAGCCAGAGAAGGGGCCAGTCGGAAAATCTTATCT
AAGCTTTCTTTGCCTACCCGTGCCTGGGAACCAGCAATGAAGAAGAGTTTTGCTTTTGAC
AATGTTGGCTATGAAGGTGGTCTGGATGGCCTGGGCCCTTCTTCTCAGGTGGCCACCAGC
ACAGTCAGGATCTTGGGCATGACTTGCCAGTCATGTGTGAAGTCCATTGAGGACAGGATT
TCCAATTTGAAAGGCATCATCAGCATGAAGGTTTCCCTGGAACAAGGCAGTGCCACTGTG
AAATATGTGCCATCGGTTGTGTGCCTGCAACAGGTTTGCCATCAAATTGGGGACATGGGC
TTCGAGGCCAGCATTGCAGAAGGAAAGGCAGCCTCCTGGCCCTCAAGGTCCTTGCCTGCC
CAGGAGGCTGTGGTCAAGCTCCGGGTGGAGGGCATGACCTGCCAGTCCTGTGTCAGCTCC
ATTGAAGGCAAGGTCCGGAAACTGCAAGGAGTAGTGAGAGTCAAAGTCTCACTCAGCAAC
CAAGAGGCCGTCATCACTTATCAGCCTTATCTCATTCAGCCCGAAGACCTCAGGGACCAT
GTAAATGACATGGGATTTGAAGCTGCCATCAAGAGCAAAGTGGCTCCCTTAAGCCTGGGA
CCAATTGATATTGAGCGGTTACAAAGCACTAACCCAAAGAGACCTTTATCTTCTGCTAAC
CAGAATTTTAATAATTCTGAGACCTTGGGGCACCAAGGAAGCCATGTGGTCACCCTCCAA
CTGAGAATAGATGGAATGCATTGTAAGTCTTGCGTCTTGAATATTGAAGAAAATATTGGC
CAGCTCCTAGGGGTTCAAAGTATTCAAGTGTCCTTGGAGAACAAAACTGCCCAAGTAAAG
TATGACCCTTCTTGTACCAGCCCAGTGGCTCTGCAGAGGGCTATCGAGGCACTTCCACCT
GGGAATTTTAAAGTTTCTCTTCCTGATGGAGCCGAAGGGAGTGGGACAGATCACAGGTCT
TCCAGTTCTCATTCCCCTGGCTCCCCACCGAGAAACCAGGTCCAGGGCACATGCAGTACC
ACTCTGATTGCCATTGCCGGCATGACCTGTGCATCCTGTGTCCATTCCATTGAAGGCATG
ATCTCCCAACTGGAAGGGGTGCAGCAAATATCGGTGTCTTTGGCCGAAGGGACTGCAACA
GTTCTTTATAATCCCTCTGTAATTAGCCCAGAAGAACTCAGAGCTGCTATAGAAGACATG
GGATTTGAGGCTTCAGTCGTTTCTGAAAGCTGTTCTACTAACCCTCTTGGAAACCACAGT
GCTGGGAATTCCATGGTGCAAACTACAGATGGTACACCTACATCTGTGCAGGAAGTGGCT
CCCCACACTGGGAGGCTCCCTGCAAACCATGCCCCGGACATCTTGGCAAAGTCCCCACAA
TCAACCAGAGCAGTGGCACCGCAGAAGTGCTTCTTACAGATCAAAGGCATGACCTGTGCA
TCCTGTGTGTCTAACATAGAAAGGAATCTGCAGAAAGAAGCTGGTGTTCTCTCCGTGTTG
GTTGCCTTGATGGCAGGAAAGGCAGAGATCAAGTATGACCCAGAGGTCATCCAGCCCCTC
GAGATAGCTCAGTTCATCCAGGACCTGGGTTTTGAGGCAGCAGTCATGGAGGACTACGCA
GGCTCCGATGGCAACATTGAGCTGACAATCACAGGGATGACCTGCGCGTCCTGTGTCCAC
AACATAGAGTCCAAACTCACGAGGACAAATGGCATCACTTATGCCTCCGTTGCCCTTGCC
ACCAGCAAAGCCCTTGTTAAGTTTGACCCGGAAATTATCGGTCCACGGGATATTATCAAA
ATTATTGAGGAAATTGGCTTTCATGCTTCCCTGGCCCAGAGAAACCCCAACGCTCATCAC
TTGGACCACAAGATGGAAATAAAGCAGTGGAAGAAGTCTTTCCTGTGCAGCCTGGTGTTT
GGCATCCCTGTCATGGCCTTAATGATCTATATGCTGATACCCAGCAACGAGCCCCACCAG
TCCATGGTCCTGGACCACAACATCATTCCAGGACTGTCCATTCTAAATCTCATCTTCTTT
ATCTTGTGTACCTTTGTCCAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGCCTACAAA
TCTCTGAGACACAGGTCAGCCAACATGGACGTGCTCATCGTCCTGGCCACAAGCATTGCT
TATGTTTATTCTCTGGTCATCCTGGTGGTTGCTGTGGCTGAGAAGGCGGAGAGGAGCCCT
GTGACATTCTTCGACACGCCCCCCATGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTG
GAACACTTGGCAAAGAGCAAAACCTCAGAAGCCCTGGCTAAACTCATGTCTCTCCAAGCC
ACAGAAGCCACCGTTGTGACCCTTGGTGAGGACAATTTAATCATCAGGGAGGAGCAAGTC
CCCATGGAGCTGGTGCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGTTTCCA
GTGGATGGGAAAGTCCTGGAAGGCAATACCATGGCTGATGAGTCCCTCATCACAGGAGAA
GCCATGCCAGTCACTAAGAAACCCGGAAGCACTGTAATTGCGGGGTCTATAAATGCACAT
GGCTCTGTGCTCATTAAAGCTACCCACGTGGGCAATGACACCACTTTGGCTCAGATTGTG
AAACTGGTGGAAGAGGCTCAGATGTCAAAGGCACCCATTCAGCAGCTGGCTGACCGGTTT
AGTGGATATTTTGTCCCATTTATCATCATCATGTCAACTTTGACGTTGGTGGTATGGATT
GTAATCGGTTTTATCGATTTTGGTGTTGTTCAGAGATACTTTCCTAACCCCAACAAGCAC
ATCTCCCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCATCACGGTGCTGTGC
ATTGCCTGCCCCTGCTCCCTGGGGCTGGCCACGCCCACGGCTGTCATGGTGGGCACCGGG
GTGGCCGCGCAGAACGGCATCCTCATCAAGGGAGGCAAGCCCCTGGAGATGGCGCACAAG
ATAAAGACTGTGATGTTTGACAAGACTGGCACCATTACCCATGGCGTCCCCAGGGTCATG
CGGGTGCTCCTGCTGGGGGATGTGGCCACACTGCCCCTCAGGAAGGTTCTGGCTGTGGTG
GGGACTGCGGAGGCCAGCAGTGAACACCCCTTGGGCGTGGCAGTCACCAAATACTGTAAA
GAGGAACTTGGAACAGAGACCTTGGGATACTGCACGGACTTCCAGGCAGTGCCAGGCTGT
GGAATTGGGTGCAAAGTCAGCAACGTGGAAGGCATCCTGGCCCACAGTGAGCGCCCTTTG
AGTGCACCGGCCAGTCACCTGAATGAGGCTGGCAGCCTTCCCGCAGAAAAAGATGCAGTC
CCCCAGACCTTCTCTGTGCTGATTGGAAACCGTGAGTGGCTGAGGCGCAACGGTTTAACC
ATTTCTAGCGATGTCAGTGACGCTATGACAGACCACGAGATGAAAGGACAGACAGCCATC
CTGGTGGCTATTGACGGTGTGCTCTGTGGGATGATCGCAATCGCAGACGCTGTCAAGCAG
GAGGCTGCCCTGGCTGTGCACACGCTGCAGAGCATGGGTGTGGACGTGGTTCTGATCACG
GGGGACAACCGGAAGACAGCCAGAGCTATTGCCACCCAGGTTGGCATCAACAAAGTCTTT
GCAGAGGTGCTGCCTTCGCACAAGGTGGCCAAGGTCCAGGAGCTCCAGAATAAAGGGAAG
AAAGTCGCCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGCAGACATG
GGTGTGGCCATTGGCACCGGCACGGATGTGGCCATCGAGGCAGCCGACGTCGTCCTTATC
AGAAATGATTTGCTGGATGTGGTGGCTAGCATTCACCTTTCCAAGAGGACTGTCCGAAGG
ATACGCATCAACCTGGTCCTGGCACTGATTTATAACCTGGTTGGGATACCCATTGCAGCA
GGTGTCTTCATGCCCATCGGCATTGTGCTGCAGCCCTGGATGGGCTCAGCGGCCATGGCA
GCCTCCTCTGTGTCTGTGGTGCTCTCATCCCTGCAGCTCAAGTGCTATAAGAAGCCTGAC
CTGGAGAGGTATGAGGCACAGGCGCATGGCCACATGAAGCCCCTGACGGCATCCCAGGTC
AGTGTGCACATAGGCATGGATGACAGGTGGCGGGACTCCCCCAGGGCCACACCATGGGAC
CAGGTCAGCTATGTCAGCCAGGTGTCGCTGTCCTCCCTGACGTCCGACAAGCCATCTCGG
CACAGCGCTGCAGCAGACGATGATGGGGACAAGTGGTCTCTGCTCCTGAATGGCAGGGAT
GAGGAGCAGTACATCTGA
GenBank Gene IDU11700
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:870
Chromosome Location13
Locus13q14.3
References
  1. Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC: 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 Sep;3(9):1647-56. 7833924
  2. Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT: The DNA sequence and analysis of human chromosome 13. Nature. 2004 Apr 1;428(6982):522-8. 15057823
  3. Oh WJ, Kim EK, Park KD, Hahn SH, Yoo OJ: Cloning and characterization of the promoter region of the Wilson disease gene. Biochem Biophys Res Commun. 1999 May 27;259(1):206-11. 10334941
  4. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993 Dec;5(4):327-37. 8298639
  5. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993 Dec;5(4):344-50. 8298641
  6. Yamaguchi Y, Heiny ME, Gitlin JD: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun. 1993 Nov 30;197(1):271-7. 8250934
  7. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW: The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995 Feb;9(2):210-7. 7626145
  8. Yang XL, Miura N, Kawarada Y, Terada K, Petrukhin K, Gilliam T, Sugiyama T: Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments. Biochem J. 1997 Sep 15;326 ( Pt 3):897-902. 9307043
  9. Lutsenko S, Cooper MJ: Localization of the Wilson's disease protein product to mitochondria. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6004-9. 9600907
  10. Tao TY, Liu F, Klomp L, Wijmenga C, Gitlin JD: The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem. 2003 Oct 24;278(43):41593-6. Epub 2003 Sep 10. 12968035
  11. Lim CM, Cater MA, Mercer JF, La Fontaine S: Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A. J Biol Chem. 2006 May 19;281(20):14006-14. Epub 2006 Mar 22. 16554302
  12. LeShane ES, Shinde U, Walker JM, Barry AN, Blackburn NJ, Ralle M, Lutsenko S: Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B. J Biol Chem. 2010 Feb 26;285(9):6327-36. doi: 10.1074/jbc.M109.074633. Epub 2009 Dec 23. 20032459
  13. Banci L, Bertini I, Cantini F, Rosenzweig AC, Yatsunyk LA: Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1. Biochemistry. 2008 Jul 15;47(28):7423-9. doi: 10.1021/bi8004736. Epub 2008 Jun 18. 18558714
  14. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, et al.: Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet. 1995 Dec;57(6):1318-24. 8533760
  15. Waldenstrom E, Lagerkvist A, Dahlman T, Westermark K, Landegren U: Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics. 1996 Nov 1;37(3):303-9. 8938442
  16. Loudianos G, Dessi V, Angius A, Lovicu M, Loi A, Deiana M, Akar N, Vajro P, Figus A, Cao A, Pirastu M: Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Hum Genet. 1996 Dec;98(6):640-2. 8931691
  17. Chuang LM, Wu HP, Jang MH, Wang TR, Sue WC, Lin BJ, Cox DW, Tai TY: High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet. 1996 Jun;33(6):521-3. 8782057
  18. Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Anneren G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K: Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet. 1997 Aug;61(2):317-28. 9311736
  19. Fan Y, Yang R, Yu L, Wu M, Shi S, Ren M, Han Y, Hu J, Zhao S: Identification of a novel missense mutation in Wilson's disease gene. Chin Med J (Engl). 1997 Nov;110(11):887-90. 9772425
  20. Orru S, Thomas G, Loizedda A, Cox DW, Contu L: 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease. Hum Mutat. 1997;10(1):84-5. 9222767
  21. Kemppainen R, Palatsi R, Kallioinen M, Oikarinen A: A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts. J Invest Dermatol. 1997 Jan;108(1):35-9. 8980283
  22. Duc HH, Hefter H, Stremmel W, Castaneda-Guillot C, Hernandez Hernandez A, Cox DW, Auburger G: His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Eur J Hum Genet. 1998 Nov-Dec;6(6):616-23. 9887381
  23. Kalinsky H, Funes A, Zeldin A, Pel-Or Y, Korostishevsky M, Gershoni-Baruch R, Farrer LA, Bonne-Tamir B: Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat. 1998;11(2):145-51. 9482578
  24. Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH: Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat. 1998;11(4):275-8. 9554743
  25. Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K: Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat. 1998;Suppl 1:S320-2. 9452121
  26. Loudianos G, Dessi V, Lovicu M, Angius A, Nurchi A, Sturniolo GC, Marcellini M, Zancan L, Bragetti P, Akar N, Yagci R, Vegnente A, Cao A, Pirastu M: Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat. 1998;12(2):89-94. 9671269
  27. Tsai CH, Tsai FJ, Wu JY, Chang JG, Lee CC, Lin SP, Yang CF, Jong YJ, Lo MC: Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat. 1998;12(6):370-6. 9829905
  28. Wu Z, Wang N, Murong S, Lin M: [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr;16(2):91-3. 10194254
  29. Haas R, Gutierrez-Rivero B, Knoche J, Boker K, Manns MP, Schmidt HH: Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. Hum Mutat. 1999;14(1):88. 10447265
  30. Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi P, Pirastu M, Cao A: Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. Hum Mutat. 1999;14(4):294-303. 10502776
  31. Curtis D, Durkie M, Balac (Morris) P, Sheard D, Goodeve A, Peake I, Quarrell O, Tanner S: A study of Wilson disease mutations in Britain. Hum Mutat. 1999;14(4):304-11. 10502777
  32. Ivanova-Smolenskaya IA, Ovchinnikov IV, Karabanov AV, Deineko NL, Poleshchuk VV, Markova ED, Illarioshkin SN: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. J Med Genet. 1999 Feb;36(2):174. 10051024
  33. Loudianos G, Dessi V, Lovicu M, Angius A, Altuntas B, Giacchino R, Marazzi M, Marcellini M, Sartorelli MR, Sturniolo GC, Kocak N, Yuce A, Akar N, Pirastu M, Cao A: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. J Med Genet. 1999 Nov;36(11):833-6. 10544227
  34. Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T: Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Pediatr Int. 1999 Aug;41(4):409-13. 10453196
  35. Loudianos G, Lovicu M, Solinas P, Kanavakis E, Tzetis M, Manolaki N, Panagiotakaki E, Karpathios T, Cao A: Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. Genet Test. 2000;4(4):399-402. 11216666
  36. Garcia-Villarreal L, Daniels S, Shaw SH, Cotton D, Galvin M, Geskes J, Bauer P, Sierra-Hernandez A, Buckler A, Tugores A: High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. Hepatology. 2000 Dec;32(6):1329-36. 11093740
  37. Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat. 2000;15(5):454-62. 10790207
  38. Kusuda Y, Hamaguchi K, Mori T, Shin R, Seike M, Sakata T: Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. J Hum Genet. 2000;45(2):86-91. 10721669
  39. Lee CC, Wu JY, Tsai FJ, Kodama H, Abe T, Yang CF, Tsai CH: Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. J Hum Genet. 2000;45(5):275-9. 11043508
  40. Genschel J, Czlonkowska A, Sommer G, Buettner C, Bochow B, Lochs H, Schmidt H: Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease. Hum Mutat. 2001 Feb;17(2):156. 11180609
  41. Caca K, Ferenci P, Kuhn HJ, Polli C, Willgerodt H, Kunath B, Hermann W, Mossner J, Berr F: 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 Nov;35(5):575-81. 11690702
  42. Butler P, McIntyre N, Mistry PK: Molecular diagnosis of Wilson disease. Mol Genet Metab. 2001 Mar;72(3):223-30. 11243728
  43. Ohya K, Abo W, Tamaki H, Sugawara C, Endo T, Nomachi S, Fukushi M, Kinebuchi M, Matsuura A: Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. Eur J Pediatr. 2002 Feb;161(2):124-6. 11954751
  44. Yoo HW: Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Genet Med. 2002 Nov-Dec;4(6 Suppl):43S-48S. 12544487
  45. Loudianos G, Lovicu M, Dessi V, Tzetis M, Kanavakis E, Zancan L, Zelante L, Galvez-Galvez C, Cao A: Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. Hum Mutat. 2002 Oct;20(4):260-6. 12325021
  46. Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T: Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet. 2002;47(10):543-7. 12376745
  47. Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, 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 Dec;64(6):479-84. 14986826
  48. Majumdar R, Al-Jumah M, Zaidan R: A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease. Eur Neurol. 2004;51(1):52-4. Epub 2003 Nov 21. 14639035
  49. Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH: Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat. 2004 Apr;23(4):398. 15024742
  50. Pendlebury ST, Rothwell PM, Dalton A, Burton EA: Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. Neurology. 2004 Nov 23;63(10):1982-3. 15557537
  51. Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX: Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol. 2004 Feb 15;10(4):590-3. 14966923
  52. Dedoussis GV, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H: Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet. 2005 May;69(Pt 3):268-74. 15845031
  53. Kumar S, Thapa BR, Kaur G, Prasad R: Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. Clin Genet. 2005 May;67(5):443-5. 15811015
  54. Margarit E, Bach V, Gomez D, Bruguera M, Jara P, Queralt R, Ballesta F: 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 Jul;68(1):61-8. 15952988
  55. Todorov T, Savov A, Jelev H, Panteleeva E, Konstantinova D, Krustev Z, Mihaylova V, Tournev I, Tankova L, Tzolova N, Kremensky I: Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. Clin Genet. 2005 Nov;68(5):474-6. 16207219
  56. Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Czlonkowska A: 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 Dec;68(6):524-32. 16283883
  57. Cox DW, Prat L, Walshe JM, Heathcote J, Gaffney D: Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Hum Mutat. 2005 Sep;26(3):280. 16088907
  58. 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 Sep-Oct;86(1-2):277-85. Epub 2005 Jun 20. 15967699
  59. Barada K, Nemer G, ElHajj II, Touma J, Cortas N, Boustany RM, Usta J: Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. Clin Genet. 2007 Sep;72(3):264-7. 17718866
  60. Davies LP, Macintyre G, Cox DW: New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. Genet Test. 2008 Mar;12(1):139-45. doi: 10.1089/gte.2007.0072. 18373411
  61. Hsi G, Cullen LM, Macintyre G, Chen MM, Glerum DM, Cox DW: Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Hum Mutat. 2008 Apr;29(4):491-501. doi: 10.1002/humu.20674. 18203200
  62. Abdel Ghaffar TY, Elsayed SM, Elnaghy S, Shadeed A, Elsobky ES, Schmidt H: Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. BMC Pediatr. 2011 Jun 17;11:56. doi: 10.1186/1471-2431-11-56. 21682854
  63. Nussinson E, Shahbari A, Shibli F, Chervinsky E, Trougouboff P, Markel A: Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice. World J Hepatol. 2013 Nov 27;5(11):649-53. doi: 10.4254/wjh.v5.i11.649. 24303094