Genetics of Menke's disease

The gene involved in the pathogenesis of Menke's disease is found at chromosome Xq13.3.

The gene product (MNK) is a cation-binding P-type ATPase which is expressed in all tissues except the liver (1)

• there is mutation of ATP 7A gene (MNK; chromosome Xq13.3) which encodes a copper transporting enzyme adenosine triphosphatase responsible for intestinal absorption of copper (2)

Reference:

• Vulpe, C. et al. (1993). Nature Genet. 3, 7-13.
• Jen M, Shah KN, Yan AC. Skin in nutritional, metabolic and heritable disease. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick?s dermatology in general medicine. 7th ed. New York: McGraw Hill; 2008. pp. 1201-18. Vol. 2.