You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP02612
Secondary Accession Numbers
  • 8111
Name Copper-transporting ATPase 2
Synonyms
  1. Copper pump 2
  2. WND/140 kDa
  3. Wilson disease-associated protein
Gene Name ATP7B
Protein Type Transporter
Biological Properties
General Function Involved in ATP binding
Specific Function Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
ATP biosynthetic process
cellular copper ion homeostasis
copper ion import
lactation
cellular zinc ion homeostasis
intracellular copper ion transport
sequestering of calcium ion
response to copper ion
Cellular Component
mitochondrion
trans-Golgi network
late endosome
Golgi membrane
integral to plasma membrane
Component
membrane
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
ion binding
cation binding
di-, tri-valent inorganic cation transmembrane transporter activity
metal ion binding
binding
catalytic activity
hydrolase activity
metal ion transmembrane transporter activity
copper ion transmembrane transporter activity
copper-transporting atpase activity
copper-exporting atpase activity
transition metal ion binding
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
cation transmembrane transporter activity
inorganic cation transmembrane transporter activity
transporter activity
copper ion binding
atpase activity, coupled to transmembrane movement of ions
atpase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
hydrolase activity, acting on acid anhydrides
Molecular Function
ATP binding
copper ion binding
copper-exporting ATPase activity
Process
purine nucleotide metabolic process
purine nucleotide biosynthetic process
purine nucleoside triphosphate biosynthetic process
purine ribonucleoside triphosphate biosynthetic process
metabolic process
nitrogen compound metabolic process
cellular nitrogen compound metabolic process
nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
nucleobase, nucleoside and nucleotide metabolic process
copper ion transport
nucleoside phosphate metabolic process
nucleotide metabolic process
establishment of localization
transport
ion transport
atp biosynthetic process
cation transport
metal ion transport
transition metal ion transport
Cellular Location
  1. WND/140 kDa:Mitochondrion
Gene Properties
Chromosome Location 13
Locus 13q14.3
SNPs ATP7B
Gene Sequence
>4398 bp
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
Protein Properties
Number of Residues 1465
Molecular Weight 157261.34
Theoretical pI 6.704
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>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
GenBank ID Protein 55743071
UniProtKB/Swiss-Prot ID P35670
UniProtKB/Swiss-Prot Entry Name ATP7B_HUMAN
PDB IDs
GenBank Gene ID NM_000053.2
GeneCard ID ATP7B
GenAtlas ID ATP7B
HGNC ID HGNC:870
References
General References
  1. 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. [PubMed:15057823 ]
  2. 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. [PubMed:7833924 ]
  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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed:12968035 ]
  11. 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. [PubMed:8533760 ]
  12. 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. [PubMed:8938442 ]
  13. 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. [PubMed:8931691 ]
  14. 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. [PubMed:8782057 ]
  15. 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. [PubMed:9311736 ]
  16. 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. [PubMed:9772425 ]
  17. 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. [PubMed:9222767 ]
  18. 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. [PubMed:8980283 ]
  19. 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. [PubMed:9887381 ]
  20. 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. [PubMed:9482578 ]
  21. 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. [PubMed:9554743 ]
  22. 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. [PubMed:9452121 ]
  23. 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. [PubMed:9671269 ]
  24. 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. [PubMed:9829905 ]
  25. 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. [PubMed:10194254 ]
  26. 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. [PubMed:10447265 ]
  27. 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. [PubMed:10502776 ]
  28. 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. [PubMed:10502777 ]
  29. 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. [PubMed:10051024 ]
  30. 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. [PubMed:10544227 ]
  31. 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. [PubMed:10453196 ]
  32. 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. [PubMed:11216666 ]
  33. 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. [PubMed:11093740 ]
  34. 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. [PubMed:10790207 ]
  35. 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. [PubMed:10721669 ]
  36. 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. [PubMed:11043508 ]
  37. 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. [PubMed:11180609 ]
  38. 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. [PubMed:11690702 ]
  39. Butler P, McIntyre N, Mistry PK: Molecular diagnosis of Wilson disease. Mol Genet Metab. 2001 Mar;72(3):223-30. [PubMed:11243728 ]
  40. 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. [PubMed:11954751 ]
  41. 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. [PubMed:12544487 ]
  42. 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. [PubMed:12325021 ]
  43. 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. [PubMed:12376745 ]
  44. 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. [PubMed:14986826 ]
  45. 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. [PubMed:14639035 ]
  46. 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. [PubMed:15024742 ]
  47. 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. [PubMed:15557537 ]
  48. 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. [PubMed:14966923 ]
  49. 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. [PubMed:15845031 ]
  50. 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. [PubMed:15811015 ]
  51. 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. [PubMed:15952988 ]
  52. 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. [PubMed:16207219 ]
  53. 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. [PubMed:16283883 ]
  54. 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. [PubMed:16088907 ]
  55. 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. [PubMed:15967699 ]
  56. 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. [PubMed:17718866 ]
  57. 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. [PubMed:18373411 ]
  58. 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. [PubMed:18203200 ]