[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B].
Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.
Stapelbroek
J M
JM
Afd. Kindergastro-enterologie, Universitair Medisch Centrum Utrecht, Postbus 85.090, 3508 AB Utrecht.
Ploos van Amstel
J K
JK
van Hattum
J
J
van den Berg
L H
LH
Klomp
L W J
LW
Houwen
R H J
RH
D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism*; D001921:Brain / Q000378:metabolism; D003300:Copper / Q000378:metabolism*; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000378:metabolism; D009154:Mutation
D003300:Copper; D000251:Adenosine Triphosphatases
Van gen naar ziekte; de ziekte van Wilson: koperstapeling door mutaties in ATP7B.