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Zeynep Tümer An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome Human Mutation 34

Version of Record online: 18 FEB 2013 | DOI: 10.1002/humu.22266

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Menkes disease (MD) is an X-linked disorder of copper metabolism, characterized by progressive neurodegeneration and connective tissue abnormalities as well as typical steely hair. The defective gene, ATP7A, encodes a transmembrane protein, which is involved in the delivery of copper to the secreted cuproenzymes and in the export of surplus copper from cells. This study reviews 274 published and 18 novel ATP7A mutations identified in 370 unrelated MD patients, non-pathogenic variants, functional studies of the ATP7A mutations and animal models.

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