94 articles
TK2-related mitochondrial DNA maintenance defect, myopathic form
TK2-related mitochondrial DNA maintenance defect, myopathic form (TK2 deficiency, TK2d, OMIM 609560) is an ultra-rare autosomal recessive mitochondrial myopathy with mtDNA depletion, treated with deoxycytidine/deoxythymidine therapy (KYGEVVI, FDA-approved 2025).
Translocase of the outer membrane
Translocase of the outer membrane (TOM complex, TOMCC): the mitochondrial outer membrane protein entry gate, built on the Tom40 β-barrel with receptors Tom70, Tom22, Tom20; imports most nucleus-encoded mitochondrial precursors.
Uncoupling protein
Uncoupling proteins (UCP1, UCP2, UCP3, UCP4, UCP5) are mitochondrial inner-membrane carriers that leak protons back to the matrix, producing heat instead of ATP; UCP1 drives brown-fat thermogenesis, activated by fatty acids and superoxide, inhibited by purine nucleotides.
VDAC2
VDAC2 (voltage-dependent anion channel 2) is a mammalian outer mitochondrial membrane porin, non-redundant with VDAC1/3, with a unique 11-residue N-terminal extension; it transports ATP, ADP, NADPH and Ca2+, inhibits BAK, enables BAX-mediated apoptosis, and its mouse knockout is embryonic lethal.