BolA family member 3 (BOLA3)

BolA family member 3 (BOLA3) is a mitochondrial protein essential for the assembly and insertion of iron-sulfur (Fe-S) clusters into specific mitochondrial enzymes, including those within the respiratory chain and lipoate-containing 2-oxoacid dehydrogenases[1][2][3][4][5][6]. It supports the maturation of mitochondrial proteins important for cellular energy production and metabolism, and is especially important in tissues with high mitochondrial activity such as brown/beige adipose tissue, where it regulates thermogenesis via mitochondrial homeostasis and adrenergic signaling[2][3]. Mutations in BOLA3 result in multiple mitochondrial dysfunctions syndrome type 2, a severe disorder manifesting with defects in respiratory chain complexes, dehydrogenases, glycine cleavage system, leading to metabolic failure and early lethality[1][4][6]. BOLA3 is not classified as a classical drug target (e.g., receptor, enzyme), and there are currently no drug interactions or clinically used biomarkers described for this molecule.

Other names

BolA-like protein 3bolA homolog 3MMDS2bolA-like protein 3bolA family member 3