The Rbm38-Fech axis in heme synthesis and skin photosensitivity. (A) Schematic illustration of the Rbm38-Fech axis in erythroid heme biosynthesis. Rbm38 governs the pre-mRNA splicing, stability, and translational efficiency of Fech mRNA, thereby ensuring Fech expression to chelate ferrous iron into protoporphyrin for heme synthesis. (B) The proposed model for how single-nucleotide polymorphisms in RBM38 and FECH jointly modulate human porphyrin levels and skin photosensitivity. The RBM38 single-nucleotide polymorphism rs737092 (C/C) reduces RBM38 expression, thereby lowering FECH levels. When this genetic variant is combined with the FECH IVS3-48 C/C, FECH activity is further compromised, thereby leading to porphyrin accumulation and skin photosensitivity.

The Rbm38-Fech axis in heme synthesis and skin photosensitivity. (A) Schematic illustration of the Rbm38-Fech axis in erythroid heme biosynthesis. Rbm38 governs the pre-mRNA splicing, stability, and translational efficiency of Fech mRNA, thereby ensuring Fech expression to chelate ferrous iron into protoporphyrin for heme synthesis. (B) The proposed model for how single-nucleotide polymorphisms in RBM38 and FECH jointly modulate human porphyrin levels and skin photosensitivity. The RBM38 single-nucleotide polymorphism rs737092 (C/C) reduces RBM38 expression, thereby lowering FECH levels. When this genetic variant is combined with the FECH IVS3-48 C/C, FECH activity is further compromised, thereby leading to porphyrin accumulation and skin photosensitivity.

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