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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Based on the corneal endothelial cell density, there was no evidence of a chronically decreased oxygen supply of the anterior segment even after complex eye muscle surgery.