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Gene Review:

ATP7B - ATPase, Cu++ transporting, beta polypeptide

Ovis aries

Lockhart, P.J. et al., Lockhart, P.J. et al.

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Disease relevance of ATP7B

The Wilson disease protein (ATP7B) is a copper transporting P-type ATPase that is responsible for the efflux of hepatic copper into the bile [1].
To investigate the function of sheep ATP7B and its potential role in the copper-accumulation phenotype, cDNAs encoding the two forms of ovine ATP7B were transfected into immortalised fibroblast cell lines derived from a Menkes disease patient and a normal control [2].

High impact information on ATP7B

To investigate the role of ATP7B in the sheep copper accumulation phenotype, the cDNA encoding the ovine homologue of ATP7B was isolated and sequenced and the gene was localised by fluorescence in situ hybridisation to chromosome 10 [1].
ATP7B mRNA was expressed primarily in the liver with lower levels present in the intestine, hypothalamus and ovary [1].

References

Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue. Lockhart, P.J., Wilcox, S.A., Dahl, H.M., Mercer, J.F. Biochim. Biophys. Acta (2000) [Pubmed]
Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase. Lockhart, P.J., La Fontaine, S., Firth, S.D., Greenough, M., Camakaris, J., Mercer, J.F. Biochim. Biophys. Acta (2002) [Pubmed]

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