Mutations of this gene cause Wilson's disease. As ATP7B ATPase is a large transmembrane protein (8 transmembrane segments, a copper-binding domain and an ATP-binding domain), there are many mutations causing the non-functionality of this protein.
So far, about 300 such mutations are known, manifesting in different sections of the protein. However, about 40 % (the value varies geographically) of Wilson's disease is caused by a single mutation (H1069Q). This affects the ATP-binding domain and makes it impossible to split the already bound ATP molecule.
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- DMITRIEV, Oleg – TSIVKOVSKII, Ruslan – ABILDGAARD, Frits. Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations. Proc Natl Acad Sci U S A [online]. 2006, vol. 103, no. 14, p. 103, Available from <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459350/?tool=pubmed>. ISSN 0027-8424.
- EFREMOV, Roman G – KOSINSKY, Yuri A – NOLDE, Dmitry E. Molecular modeling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations. Biochem J [online]. 2004, vol. 382, no. Pt 1, p. 293-305, Available from <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1133942/?tool=pubmed>. ISSN 0264-6021 (print), 1470-8728.
- AXELSEN, Kristian B. P-TYPE ATPase DATABASE [online]. ©2009. [cit. 2009-12-14]. <http://www.traplabs.dk/patbase/>.
- MARECEK, Z.. Diagnosis and treatment of Wilson's disease [online]. ©2009. [cit. 2009-12-14]. <http://ceska-hepatologie.cz/?node=44>.