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Schematic representation of the hALAS2 C-terminal domain and changes introduced with the XLPP mutations. The hALAS2 mutations observed in XLPP patients yield either truncated ALAS2 proteins or variants of ALAS2 with a different C-terminus (blue font).15-17,22,24 The gain-of-function16,17 and proposed SUCLA2-binding16 domains and active site loop are illustrated. hALAS2 has 587 amino acids and a C-terminus 33 amino acid longer than R. capsulatus ALAS.
