ATP7A Gene

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Zhou, V. ATP7A Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4908 (accessed on 27 September 2026).

Zhou V. ATP7A Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4908. Accessed September 27, 2026.

Zhou, Vicky. "ATP7A Gene" Encyclopedia, https://encyclopedia.pub/entry/4908 (accessed September 27, 2026).

Zhou, V. (2020, December 24). ATP7A Gene. In Encyclopedia. https://encyclopedia.pub/entry/4908

Zhou, Vicky. "ATP7A Gene." Encyclopedia. Web. 24 December, 2020.

ATP7A Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/atp7a

ATPase copper transporting alpha

genes

References

Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transportingATPases, menkes and wilson disease proteins, have distinct roles in adult anddeveloping cerebellum. J Biol Chem. 2005 Mar 11;280(10):9640-5.
Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. 2008 Jan;65(1):89-91. Review.
de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson andMenkes disease: correlation of mutations with molecular defects and diseasephenotypes. J Med Genet. 2007 Nov;44(11):673-88.
Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG.Differences in ATP7A gene expression underlie intrafamilial variability in Menkesdisease/occipital horn syndrome. J Med Genet. 2007 Aug;44(8):492-7.
Greenough M, Pase L, Voskoboinik I, Petris MJ, O'Brien AW, Camakaris J.Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-typeATPase in polarized MDCK cells. Am J Physiol Cell Physiol. 2004Nov;287(5):C1463-71.
Harris ED. Basic and clinical aspects of copper. Crit Rev Clin Lab Sci. 2003Oct;40(5):547-86. Review.
Kaler SG. Metabolic and molecular bases of Menkes disease and occipital hornsyndrome. Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. Review.
Møller LB, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, JensenLR, Horn N. Similar splice-site mutations of the ATP7A gene lead to differentphenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet. 2000 Apr;66(4):1211-20.
Prohaska JR. Role of copper transporters in copper homeostasis. Am J ClinNutr. 2008 Sep;88(3):826S-9S.
Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006Nov;8(11):711-8.
Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A):biochemical and cell biology properties, and role in Menkes disease. J BioenergBiomembr. 2002 Oct;34(5):363-71. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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