Table 1.

IMS proteins in disease.

protein name	function	Mia40 substrate (Y/N)	mutation	related disease	references
ALR	disulfide relay	Y	R194H	mitochondrial myopathy and respiratory chain deficiency	[104–106]
Timm8a	IMS chaperone	Y	C66W	Mohr- Tranebjaerg syndrome	[110,112,113,115,116,118]
Coa5	complex IV assembly	Y	A53P	cardioencephalomyopethy	[138]
Coa6	complex IV assembly	Y	W59C, W66R	neonatal hypertrophic cardiomyopathy	[119,120]
Coa7	complexes I and IV assembly	Y	Y137C	mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency	[121,122]
Cox6B1	complex IV assembly	Y	R19H	severe infantile encephalomyopathy and mitochondrial complex IV deficiency	[139]
NDUFB10	complex I assembly	Y	C107S	lactic acidosis and cardiomyopathy	[140]
CHCHD2	cristae junction maintenance	Y	T61I	PD, AS, ALS and FTD	[101,108,109,125,126]
CHCHD10	cristae junction maintenance	Y	P34S, V57E, G58R, S59L, G66S, G66V, C122R, E127K	PD, AS, ALS and FTD	[109,124,127,141,142]
Micu	mitochondrial calcium homeostasis	Y	homozygous deletion	myopathy, neurological symptoms and mitochondrial disorders	[128,129,131]
AIF	respiratory chain biogenesis	N	T260A, L344F, G360R, R422W, R422Q, R430C, R451Q, A472V, P475L, V498M, I591M	neonatal mitochondriopathy and late-onset axonal polyneuropathy	[103,133,134]
Opa1	mitochondrial membrane inner membrane fusion	N	G401D, R445H, G488R, A495 V, S545R	optic atrophy, deafness, ataxia, myopathy, neuropathy and progressive external ophthalmoplegia	[136]