Copper-transporting ATPase 2
Definition:
References:
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[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]