Mutation spectrum of ATP7A, the gene defective in Menkes disease.

Article Details

Citation

Tumer Z, Moller LB, Horn N

Mutation spectrum of ATP7A, the gene defective in Menkes disease.

Adv Exp Med Biol. 1999;448:83-95.

PubMed ID
10079817 [ View in PubMed
]
Abstract

Our knowledge about Menkes disease (MD) has expanded greatly since its description in 1962 as a new X-linked recessive neurodegenerative disorder of early infancy. Ten years later a defect in copper metabolism was established as the underlying biochemical deficiency. In the beginning of 1990s efforts were concentrated on the molecular genetic aspects. The disease locus was mapped to Xq13.3 and the gene has been isolated by means of positional cloning. This was the beginning of a series of new findings which have greatly enhanced our understanding of copper metabolism not only in human, but also in other species. This review will focus on the molecular genetic aspects of Menkes disease and its allelic form occipital horn syndrome. The mutations will be compared briefly with those described in the animal model mottled mouse, and in Wilson disease, the autosomal recessive disorder of copper metabolism.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Copper-transporting ATPase 1Q04656Details