FigureĀ 1.
The heme biosynthetic pathway. Heme biosynthesis occurs by 8 sequential enzymatic steps. Decreased activity of ferrochelatase, the final enzyme in the pathway, leads to EPP. XLP is caused by gain-of-function mutations in ALAS2, the enzyme that catalyzes the initial step in this pathway within the erythroblast.

The heme biosynthetic pathway. Heme biosynthesis occurs by 8 sequential enzymatic steps. Decreased activity of ferrochelatase, the final enzyme in the pathway, leads to EPP. XLP is caused by gain-of-function mutations in ALAS2, the enzyme that catalyzes the initial step in this pathway within the erythroblast.

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