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Figure 2. Human enamelin, enamelysin, kallikrein-4, and DLX3 genes in amelogenesis imperfecta. Mutations and phenotypic effects. The exons are represented by cylinders, and introns are represented by bars. The translation initiation codon is depicted in the diagram as  and the stop codon is depicted as  ;. Vertical arrows show the location of the mutations, while the branched boxes include the genomic DNA (upper row) and the mutated protein (lower row). The phenotypic effects of these proteins, as well as the references where each mutation is described, are depicted below the gene representation. (A) The genomic organization of the enamelin gene is based on data from Hu CC et al.(2000) and Hu et al. (2001a). The translation start codon is in exon 3, and the translation stop codon is in exon 10. Exon 2 is shaded more darkly, as a reminder that this exon is skipped in human cDNA. (B) The genomic organization of the human enamelysin gene, based on data from Llano et al.(1997), Simmer et al.(2000), and Caterina et al.(2000). The translation start codon is in exon 1, and the translation stop codon is in exon 10. (C) The genomic organization of the human KLK4 gene, based on data by Hu JC et al.(2000). The translation start codon is in exon 2, and the translation stop codon is in exon 6. (D) DLX3 genomic organization, based on data from Price et al.(1998a).
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