{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ABCB7 is a mitochondrial ATP‐binding cassette transporter localized in the inner mitochondrial membrane that plays a pivotal role in cellular iron homeostasis and iron–sulfur (Fe–S) cluster biogenesis. It is required for the export of a mitochondrially derived substrate necessary for the assembly of cytosolic Fe–S proteins, thereby indirectly influencing the activity of numerous enzymes that depend on these essential cofactors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Mutations in ABCB7 have been linked to X‐linked sideroblastic anemia with ataxia—a disease characterized by defects in heme synthesis, mitochondrial iron accumulation, and neurodegeneration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, aberrant splicing events (for example, those associated with SF3B1 mutations) that lead to reduced ABCB7 expression cause mitochondrial iron sequestration, destabilize key heme biosynthetic enzymes (such as ferrochelatase), and result in the formation of ring sideroblasts in myelodysplastic syndromes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": " Furthermore, ABCB7 appears to physically associate with proteins such as ferrochelatase and ABCB10, underscoring its integrated role in coordinating mitochondrial iron utilization for heme synthesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}, {"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Beyond its role in Fe–S cluster export, ABCB7 also aids in modulating intracellular iron levels and limiting oxidative stress by reducing mitochondrial reactive oxygen species, thus protecting cells from both apoptotic and non‐apoptotic cell death."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Collectively, these studies highlight the essential function of ABCB7 in maintaining mitochondrial and cellular iron balance and demonstrate its impact on hematologic and neurodegenerative disease phenotypes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Corinne Pondarré, Brendan B Antiochos, Dean R Campagna, et al. 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