The most major role of<unk>  is inside the mitochondria's IMS (it is imported into the mitochondria from the cytosol).If we describe the normal pathway as follows: # Cysteine rich subtracts (CX3C, CX9C) which are in the cytosol enter into inter-membrane space via the TOM. # These subtracts are processed by Mia40 protein which folds them. In each fold an SS bond is formed and an electron is taken (through the H atom) into the Mia40. Only in the folded form these folded proteins can further enter to the mitochondria's matrix. #<unk>  takes the electron from Mia40 and transfer it to cytochrome c. Otherwise, when the<unk>  does not take the electron: # ETC efficiency will decrease. # Mia40 will be "saturated" and will not be able to fold the subtracts. These unfolded proteins will not be able to enter the matrix and therefore: ## The mitochondria will lack various building blocks and its ability to maintain itself will be hindered (e.g., It will not be able to produce cytochrome c oxidase and other building blocks for the ETC, maintenance, correction of errors and splitting). ## The IMS will become bloated with partially folded proteins with structural damage. This damage may cause cytochrome c depletion and lead to apoptosis. ## Mia40 and the partially folded protein may free their electrons, eventually, as free radical which hinders the mitochondria, including its DNA, until it cannot repair itself. # Mitochondrial unfolded protein response will be initiated.<unk>  has a few more roles which may be affected, with dependence on the mutation type and location. These include: * Mitochondrial fission regulation by inhibition of Drp1 *<unk> , acts as an augmentor of liver regeneration. *<unk>  interacts with various protein as a regulator of cell apoptosis process.
GFER Syndrome
GRACILE syndrome
RAPADILINO syndrome
CLOVES syndrome
Crigler–Najjar syndrome
Van Gogh syndrome
Diogenes syndrome
Van der Woude syndrome