Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

S Küry, B Dréno, S Bézieau, S Giraudet, M Kharfi… - Nature …, 2002 - nature.com
S Küry, B Dréno, S Bézieau, S Giraudet, M Kharfi, R Kamoun, JP Moisan
Nature genetics, 2002nature.com
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.
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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