Copper-transporting ATPase 2

Definition:

Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.

References:

[1]. Dominik Huster, et al. Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology. 2012 Apr;142(4):947-956.e5. [Content Brief]

[2]. Ozlenen Simsek Papur, et al. Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model. J Trace Elem Med Biol. 2015;31:33-6. [Content Brief]

[3]. Gloria Hsi, et al. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Hum Mutat. 2008 Apr;29(4):491-501. [Content Brief]

[4]. Lelita T Braiterman, et al. Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):E1364-73. [Content Brief]

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