The Spectra of Disease-Causing Mutations in the Ferroportin 1 (<i>SLC40A1</i>) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

<div>Close-up views of the 3D structure of human SLC40A1 (pdb 6WBV). (a) Ribbon representation of the inner gate in which amino acids discussed in Section <a href="https://static.hindawi.com/articles/humu/volume-2023/5162256/figures/#sec2.3">2.3</a> are highlighted in atomic details. (b) Top: solvent accessible surface of SLC40A1, with the bound hepcidin displayed in a ribbon representation. Tyr64, Asn144, and Cys326 are colored red (oxygen atom), blue (nitrogen atom), and yellow (sulfur atom), respectively. Bottom: focus on Tyr64, Asn144, and Cys326. Hepcidin is shown in blue.</div>

Human Mutation

fig3

Figure 3

Figure 3: The Spectra of Disease-Causing Mutations in the Ferroportin 1 (<i>SLC40A1</i>) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease) 

Figure 3 | The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease) 