ATP7B gene
From WikiLectures
| ATP7B | |
| 13q14.3-q21.1 | |
| Associated diseases | Wilson's disease |
|---|---|
| Function | encodes the product of the same name |
| OMIM | 606882 |
| HGNC | 870 |
The ATP7B gene (13q14.3-q21.1; OMIM: 606882 ) encodes the product of the same name. The full name is: ATPase, Cu 2+ transporter, beta polypeptide.
Mutations in this gene cause Wilson's disease . Because ATP7B ATPase is a large transmembrane protein (8 transmembrane regions, copper binding domain and ATP binding domain), there are many mutations that cause this protein to malfunction.
So far, about 300 such mutations are known to occur in different regions of the protein. Nevertheless, about 40% (value varies geographically) of Wilson's disease is caused by a single mutation (H1069Q). This affects the ATP binding domain and prevents the cleavage of an already bound ATP molecule.
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External links[edit | edit source]
References[edit | edit source]
- DMITRIEV, Oleg, Ruslan TSIVKOVSKII and Frits ABILDGAARD, et al. Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations. Proc Natl Acad Sci USA [online] . 2006, vol 103, no. 14, pp. 5302-7, also available from < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459350/?tool=pubmed >. ISSN 0027-8424.
- EFREMOV, Roman G, Yuri A KOSINSKY and Dmitry E NOLDE, et al. 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, pp. 293-305, also 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. Last revision 2009-02-04, [cit. 2009-12-14]. < http://www.traplabs.dk/patbase/ >.
- MAREČEK, Z .. Diagnosis and treatment of Wilson's disease [online]. © 2009. Last revision 2008, [cited. 2009-12-14]. < http://ceska-hepatologie.cz/?node=44 >.
