SLC39A4 gene as a candidate intestinal zinc-specific transporter within the susceptibility locus for the zinc-deficiency type of acrodermatitis enteropathica (AEZ) on 8q24.3. The gene is expressed as an mRNA of 2.5 kb in only a few tissues, i.e., kidney, colon, duodenum and jejunum. The duodenum and jejunum are crucial sites of zinc absorption. These transcripts encode proteins of 647 and 622 amino acids sharing the same C-terminal 583 residues. Computational analysis predicted that the larger protein has a cytoplasmic membrane location and a secondary structure characteristic of a ZIP protein, consisting of 8 transmembrane domains organized in 2 blocks of 3 and 5, respectively. These 2 blocks are separated by a variable intracytoplasmic metal-binding site.
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