Iron-sulfur cluster assembly factor IBA57 (IBA57)

Iron-sulfur cluster assembly factor IBA57 is a nuclear-encoded mitochondrial protein that functions together with ISCA1 and ISCA2 in the reductive fusion of [2Fe-2S] clusters to form [4Fe-4S] cluster cofactors. These clusters are then incorporated into various mitochondrial proteins, particularly those involved in the tricarboxylic acid cycle and respiratory chain complexes I and II. IBA57 is crucial for proper mitochondrial energy metabolism, lipoyl cofactor synthesis, and the stability of Fe/S client proteins. Mutations in the IBA57 gene are linked primarily to multiple mitochondrial dysfunctions syndrome 3 (MMDS3), characterized by severe neurodegenerative disorders, spastic paraplegia, and defective mitochondrial respiratory chain function. Although there are no drugs directly targeting IBA57, its dysfunction is a cause of severe metabolic and neurological disease in humans and animals[1][2][3].

Other names

CAF17 proteinIBA57MMDS3

Not applicable; therapeutic interventions (if developed) would likely aim to restore proper [4Fe-4S] cluster assembly, perhaps via gene therapy or protein replacement. Current modulation is by genetic means in research (e.g., complementation or knockdown studies)