Abstract
We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
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Acknowledgements
This study was supported by the University Hospital of Nantes (Direction Régionale de la Recherche Clinique). S. Küry is recipient of a grant from the Association Anne de Bretagne Génétique. We are grateful to the members of the families with acrodermatitis enteropathica who collaborated on this work and to R. Breathnach for his help in the writing of this article.
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Küry, S., Dréno, B., Bézieau, S. et al. Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet 31, 239–240 (2002). https://doi.org/10.1038/ng913
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DOI: https://doi.org/10.1038/ng913
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