This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Genetics of Menke's disease

Authoring team

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.

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.