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Figure 3 | Molecular Medicine

Figure 3

From: Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Figure 3

FECH three-dimensional structure and the location of novel deleterious FECH mutations. The crystal structure of one of the homodimeric FECH monomers is shown by using secondary structure cartoons in green and the surface in light gray. The view is from the side of the protein that is membrane-bound, looking into the active site region containing protoporphyrin IX and the iron-sulfur cluster. The residues changed by the novel mutations are shown as space-filling spheres and are the indicated native residues, not the mutations.

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Molecular Medicine

ISSN: 1528-3658