title: [From gene to disease: copper-transporting P ATPases alteration].
abstract: Copper is a trace metal, essential for many biological processes. Copper is also toxic if in excessive amounts; its homeostatic balance requires a delicate regulation. Several severe hereditary human disorders of copper regulatory mechanisms have been identified; they are related to mutations in gene ATP7A and ATP7B coding for copper-transporting proteins. Those mutations result in copper deficiency for ATP7A (Menkes disease) and copper overload for ATP7B (Wilson disease). Usually, clinical and biochemical phenotypes of these diseases are disparate. This article focuses on the molecular pathogenesis of Wilson and Menkes disease, and discusses how causing mutations are correlated with molecular defects and disease phenotypes.
authors.affiliation: Ecole du Val-de-Grâce, 1 Place Alphonse-Laveran, 75005 Paris, France. carinegarcia92@wanadoo.fr
authors.forename: C
authors.initials: C
authors.lastname: Garcia Hejl
authors.forename: C
authors.initials: C
authors.lastname: Vrignaud
authors.forename: C
authors.initials: C
authors.lastname: Garcia
authors.forename: F
authors.initials: F
authors.lastname: Ceppa
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D003300:Copper / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000235:genetics; D006706:Homeostasis; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases