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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ATP7A
gene.
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005 Mar 11;280(10):9640-5. Epub 2005 Jan 5.
PubMed citation
Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. 2008 Jan;65(1):89-91. Review.
PubMed citation
de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007 Nov;44(11):673-88. Epub 2007 Aug 23. Review.
PubMed citation
Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet. 2007 Aug;44(8):492-7. Epub 2007 May 11. Erratum in: J Med Genet. 2008 Jan;45(1):64.
PubMed citation
Entrez
Gene
Greenough M, Pase L, Voskoboinik I, Petris MJ, O'Brien AW, Camakaris J. Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells. Am J Physiol Cell Physiol. 2004 Nov;287(5):C1463-71. Epub 2004 Jul 21.
PubMed citation
Harris ED. Basic and clinical aspects of copper. Crit Rev Clin Lab Sci. 2003 Oct;40(5):547-86. Review.
PubMed citation
Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. Review.
PubMed citation
Mĝller LB, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet. 2000 Apr;66(4):1211-20. Epub 2000 Mar 17.
PubMed citation
OMIM:
ATPase, Cu(2+)-TRANSPORTING, ALPHA
POLYPEPTIDE
Prohaska JR. Role of copper transporters in copper homeostasis. Am J Clin Nutr. 2008 Sep;88(3):826S-9S.
PubMed citation
Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006 Nov;8(11):711-8.
PubMed citation
Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363-71. Review.
PubMed citation
Reviewed: June 2009
Published: May 20, 2013
Indicates a page outside Genetics Home Reference.