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Related to ATP7B: ceruloplasmin


abbreviation for
1. ward
2. (Forestry) wood
3. (Linguistics) word


abbreviation for
1. (Government, Politics & Diplomacy) War Department
2. (Government, Politics & Diplomacy) Works Department
3. (Automotive Engineering) (Windward Islands) Dominica (international car registration)


1. ward.
2. word.


War Department.
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References in periodicals archive ?
Spectrum and classification of ATP7B variants in a large cohort of Chinese patients with Wilson's disease guides genetic diagnosis.
La degeneracion hepatolenticular o enfermedad de Wilson (EW) es una condicion clinica hereditaria que resulta de una mutacion del gen que codifica para la proteina ATP7B (Wilson ATPasa) en el cromosoma 13q14; su herencia es autosomica recesiva y se caracteriza por acumulacion de cobre en diferentes organos por la incapacidad del cuerpo para excretarlo (1).
The basic pathophysiology relates to improper handling of copper by the liver owing to the dysfunctional ATP7B gene.
Both patients had full gene sequencing for both the ABCB4 gene and the ATP7B gene (WD gene) (13).
Presence of KF ring on opthalmologic examination or detection of mutations in the ATP7B gene support the diagnosis.
Role of external loops of human ceruloplasmin in copper loading by ATP7B and Ccc2p.
ATP7B, an intracellular transporter of copper, is well known to be defective in Wilson disease.
1) The molecular pathogenesis is mutation in the P-type ATPase ATP7B gene, which is highly expressed in the liver, kidney, and placenta.
It is due to mutations of the ATP7B gene on chromosome 13, which codes for a membrane-bound copper transporting ATPase (2).
Wilson disease results from a mutated version of the gene ATP7B that, when inherited from both parents, causes liver and neurological damage and eventually death.