
<ArticleTitle>Expression pattern, genomic structure and evaluation of the human <prot>SLC30A4</prot> gene as a candidate for acrodermatitis enteropathica.</ArticleTitle>
<AbstractText><prot>Slc30a4</prot> is the fourth and last identified member of a mammalian proteins family presumably involved in the cellular transport of zinc, solute carrier family 30. The murine homologue of the human <prot>SLC30A4</prot> gene has previously been investigated and found responsible for the lm, a phenotype due to zinc deficiency. According to the strong homology between mouse and human <prot>SLC30A4</prot> coding sequences, and to the very similar clinical features encountered in the murine lm and in human acrodermatitis enteropathica, <prot>SLC30A4</prot> has appeared to us to be a good candidate for acrodermatitis enteropathica. Here we detail the genomic structure of human <prot>SLC30A4</prot> together with its localization on chromosome 15q15-q21. We also report the mutational analysis of human <prot>SLC30A4</prot> in ten families with acrodermatitis enteropathica, which enabled us to exclude this gene from any involvement in the disorder of the patients examined.</AbstractText>
