Article
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
Nederlands tijdschrift voor geneeskunde - 13 Oct 2007
Aldenhoven M, Klomp L W, van Hasselt P M, de Koning T J, Visser G
Abstract excerpt
Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the circulation and...
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