ATP7B (WND) protein.
Int J Biochem Cell Biol
; 30(10): 1063-7, 1998 Oct.
Article
em En
| MEDLINE
| ID: mdl-9785470
ABSTRACT
Wilson's disease is a genetic disorder of copper metabolism characterized by the excessive accumulation of this metal in the liver. The gene for Wilson's disease, designated ATP7B, encodes a copper transporting P-type ATPase expressed predominantly in the liver. Over 60 disease specific mutations of ATP7B have now been reported in patients with Wilson's disease. The gene for ATP7B is approximately 80 kb and contains 21 exons that encode an approximately 7.5 kb transcript. Recent studies that focus on the structure and expression of the ATP7B protein support its role as a copper transporter involved in the intracellular trafficking of copper in hepatocytes. The introduction of functional ATP7B protein by recombinant adenovirus mediated gene delivery will be a potential approach for correcting Wilson's disease.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte
/
Adenosina Trifosfatases
/
Cobre
/
Proteínas de Transporte de Cátions
/
Degeneração Hepatolenticular
/
Fígado
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Int J Biochem Cell Biol
Assunto da revista:
BIOQUIMICA
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Japão