Gene: [13q143/ATP7B] ATPase, Cu++ transporting, beta polypeptide (Wilson disease); Wilson disease (hepatolenticular degeneration);
COM | Bull-1993, Petrukhin-1993 and Tanzi-1993 had independently isolated the same gene which was convincingly the one mutant in Wilson disease, mapped it to the 13q14.3 and proved to have the characteristics of a copper-transporting ATPase." |
FUN | The ATP7B gene product may participate in the export of copper from cells, whereas the ATP7A gene product has a role in the import of copper (GEM:0Xq13/ATP7A)." |
PAT | Neurologic manifestations and signs of liver failure are the main symptoms of Wilson disease resulting from the copper-transporting ATPase (ATP7B) gene mutations and disturbances in copper metabolism." |
FAG | The gene coding for ceruloplasmin is mapped to Chr 3: GEM:03q25/CP. |
HIS | WND gene is located more distal than retonoblastoma gene (GEM:13q142/RB1), 4.2 cM apart (Bowcock-1989), that corresponds approximately 4-5 Mb on the physical map." |
REF | LIN
"Bonne-Tamir B &: Genet Epidemiol, 3, 201-209, 1986 MAP,MAG,MOL "Bowcock AM &: AJHG, 43, N5, 664-674, 1988 LOC,LIN,MOL "Bowcock AM &: AJHG, 41, 27-35, 1987 TER "Brewer GJ &: J Lab Clin Med, 123, 849-858, 1994 COD,SEQ,EVO,LOC,LIN "Bull PC &: Nature Genet, 5, 327-337, 1993 PND "Cossu P &: New Engl J Med, 327, 57-57, 1992 LOC,LIN,MOL "Farrer LA &: CCG, 51, (HGM10), 997-998, 1989 LOC,LIN,MOL "Farrer LA &: Hum Genet, 79, 109-117, 1988 MUT,PAT,POG "Figus A &: AJHG, 57, 1318-1324, 1995 LIN "Frydman M &: PNAS, 82, 1819-1821, 1985 TER "Hoogenraad TU: Arch Neurol, 51, 972-973, 1994 MAF,LIN "Kooy RF &: Hum Genet, 91, 504-506, 1993 GEN,SEQ,EXP "Petrukhin KE &: Hum Mol Genet, 3, 1647-1656, 1994 COD,SEQ,LOC,MAF "Petrukhin KE &: Nature Genet, 5, 338-343, 1993 COD,SEQ,MUT,LIN,EVO,FAG "Tanzi RE &: Nature Genet, 5, 344-350, 1993 PAT,MUT,POG "Thomas GR &: AJHG, 56, 1315-1319, 1995a PAT,MUT,POG "Thomas GR &: Nature Genet, 9, 210-217, 1995b PAT,MUT,FOG "Thomas GR &: AJHG, 54, 71-78, 1994 REV,PAT,TER "Walshe JM: Quart J Med, 89, 553-555, 1996 LOC,LIN,MOL "Yuzbasiyan-Gurkan V &: AJHG, 42, 825-829, 1988 |
SWI | SWISSPROT: P35670 |
KEY | neu, git, mtbd, ion |
CLA | coding, basic |
LOC | 13 q14.3 |
MIM | MIM: 277900 |
EZN | ENZYME: 3.6.1.36 |
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