Article
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
Human mutation - 1 Apr 2008
Hsi Gloria, Cullen Lara M, Macintyre Georgina, Chen Matthew M, Glerum D Moira, Cox Diane W
Abstract excerpt
ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND). Functional assessment of variants helps to distinguish normal from disease-causing variants and provides information on important amino acid residues. A total of 11 missense variants of ATP7B, originally identified in WND patients, were examined for their capacity to functionally...
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