Özet:
The Wilson disease gene, a copper transporting ATPase (Atp7b), is responsible for the sequestration of
Cu into secretory vesicles, and this function is exhibited by the orthologous Ccc2p in the yeast. In this
study, we aimed to characterize clinically relevant new mutations of human ATP7B (p.T788I, p.V1036I
and p.R1038G-fsX83)in yeastlacking the CCC2 gene. Expression of human wild type ATP7B gene in ccc2
mutant yeast restored the growth deficiency and copper transport activity; however, expression of the
mutant forms did not restore the copper transport functions and only partially supported the cell growth.
Our data support that p.T788I, p.V1036I and p.R1038G-fsX83 mutations cause functional deficiency in
ATP7B functions and suggest that these residues are important for normal ATP7B function.
