| Complex | Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| I | NDUFAF1(CIA30) | 606934 | Assembly | 15q13.3 | AR | Cardioencephalomyopathy | (26) |
| I | NDUFAF2(B17.2L) | 609653 | Assembly | 5q12.1 | AR | Early onset progressive encephalopathy | (45) |
| I | NDUFAF3 | 612911 | Assembly | 3p21.31 | AR | Neonatal encephalopathy | (13) |
| I | NDUFAF4(HRPAP20) | 611776 | Assembly | 6q16.1 | AR | Infantile encephalopathy | (23) |
| I | C20orf7 | 612360 | Assembly | 20p12.1 | AR | LS | (6,24) |
| I | NUBPL | 613621 | Assembly | 14q12 | AR | Encephalomyopathy | (5) |
| I | FOXRED1 | 613622 | Unknown | 11q24.2 | AR | LS | (5) |
| I | ACAD9 | 611103 | Assembly and activity | 3q26 | AR | Hypertrophic cardiopathy encephalopathy | (7) |
| II | SDHAF1 | 612848 | Assembly | 19q12-q13.2 | AR | Leukoencephalopathy | (10) |
| II | SDHAF2 | 613019 | Assembly | 11q12.2 | AD | Autosomal dominant paraganglioma type 2 | (12) |
| III | BCS1L | 603647 | Assembly | 2q33 | AR | Encephalopathy, hepatic failure and tubulopathy, LS, GRACILE syndrome, Bjornstad Syndrome | (28,59,60) |
| IV | SURF1 | 185620 | Assembly | 9q34 | AR | LS | (75,76) |
| IV | SCO1 | 603644 | Copper transport | 17p13-p12 | AR | Neonatal hepatic failure and encephalopathy | (70) |
| IV | SCO2 | 604272 | Copper transport | 22q13 | AR | Neonatal Cardioencephalomyopathy | (73) |
| IV | COX10 | 602125 | Heme A farnesyltransferase | 17p12-p11.2 | AR | Neonatal tubulopathy and encephalopathy, LS, cardiomyopathy | (55,70) |
| IV | COX15 | 603646 | Heme A synthesis | 10q24 | AR | Early-onset hypertrophic cardiomyopathy, LS | (52,56) |
| IV | LRPPRC | 220111 | Assembly | 2p21-p16 | AR | French-Canadian LS | (57) |
| IV | FASTKD2 | 612322 | Role in apoptosis | 2q33.3 | AR | Encephalomyopathy | (19) |
| IV | TACO1 | 612958 | Translational activator of COX1 | 17q22-q24.2 | AR | LS | (16) |
| V | ATPAF2 | 608918 | Assembly | 17p11.2 | AR | Early-onset encephalopathy, Lactic acidosis | (49) |
| V | TMEM70 | 604273 | Assembly | 8q21.11 | AR | Neonatal encephalopathy, cardiomyopathy | (18) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| POLG (PEOA1) | 174763 | Polymerase gamma mtDNA replication | 15q25 | AD-AR | Alpers syndrome, AD-PEO and AR-PEO, male infertility, SANDO* syndrome, SCAE* | (51,63,66) |
| POLG2 (PEOA4) | 610131 | catalytic subunit of DNA polymerase gamma | 17q23-q24 | AD | AD-PEO | (36) |
| ANT1 (PEOA2) | 609283 | ADenine nucleotide translocator isoform 1 | 4q35 | AD | AD-PEO, multiple mtDNA deletions | (69) |
| MPV17 | 137960 | regulation of mtDNA copy number | 2p23-p21 | AR | Hepatocerebral MDDS | (40) |
| C10ORF2 (PEOA3) | 609286 | Twinkle helicase | 10q24 | AD | AD-PEO, SANDO syndrome | (43,65) |
| TYMP (ECGF1) | 603041 | Thymidine phosphorylase | 22q13.32-qter | AR | MNGIE, mtDNA depletion | (72) |
| DGUOK | 601465 | Deoxyguanosine kinase Mitochondrial dNTP pool maintenance | 2p13 | AR | Hepatocerebral mtDNA depletion syndrome | (61) |
| RRM2B (PEOA5) | 604712 | ribonucleotide reductase M2 B dNTP pool | 8q23.1 | AR | Encephalomyopathic Renal tubulopathy MNGIE, AD-PEO | (14,15,25) |
| SUCLA2 | 603921 | succinate-CoA ligase, ADP-forming, beta subunit | 13q12.2-q13 | AR | Encephalomyopathy with methylmalonic aciduria | (42) |
| SUCLG1 | 611224 | succinate-CoA ligase, alpha subunit | 2p11.2 | AR | Encephalomyopathy with methylmalonic aciduria | (30) |
| TK2 | 188250 | Thymidine kinase Mitochondrial dNTP pool maintenance | 16q22 | AR | Myopathic mtDNA depletion | (64) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| DDP | 304700 | Protein import | Xq22 | X-linked | Deafness-dystonia or Mohr-Tranebjaerg syndrome | (81) |
| DNAJC19 | 608977 | Protein import | 3q26.3 | AR | Cardiomyopathy, ataxia | (35) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| EFG1 | 609060 | Elongation factor G1; mitochondrial translation defect | 3q25 | AR | Severe hepatoencephalopathy and lactic acidosis | (48) |
| YARS2 | 610957 | tyrosyl-tRNA synthetase | 12p11.21 | AR | myopathy, lactic acidosis, and sideroblastic anemia-2 | (8) |
| SARS2 | 612804 | seryl-tRNA synthetase | 19q13.2 | AR | Hyperuricemia, pulmonary hypertension, renal failure | (3) |
| DARS2 | 611105 | aspartyl-tRNA synthetase | 1q25.1 | AR | Leukoencephalopathy and lactic acidosis | (32) |
| RARS2 | 611523 | ARginyl-tRNA synthetase | 6q16.1 | AR | Pontocerebellar hypoplasia | (27) |
| MRPS16 | 609204 | Mitochondrial translation | 10q22.1 | AR | neonatal lactic acidosis corpus callosum agenesis | (50) |
| MRPS22 | 605810 | Mitochondrial translation | 3q23 | AR | cardiomyopathy, tubulopathy | (31) |
| TSFM | 604723 | Mitochondrial translation elongation | 12q13-q14 | AR | Encephalomyopathy, hypertrophic cardiomyopathy | (39) |
| TUFM | 602389 | Mitochondrial translation elongation | 16p11.2 | AR | leukodystrophy with micropolygyria | (33) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| FRDA | 606829 | Frataxin Trinuc. repeat | 9q13 | AR | Friedreich ataxia, neuropathy, cardiomyopathy, diabetes | (78,80) |
| ABCB7 | 301310 | Iron transport | Xq13.1-q13.3 | X-linked | X-linked sideroblastic anemia with ataxia | (71) |
| GLRX5 | 205950 | Iron-sulfur cluster biosynthesis | 3p22.1 | AR | Sideroblastic anemia | (11) |
| ISCU | 255125 | Iron-sulfur cluster biosynthesis | 12q23.3 | AR | Myopathy, lactic acidosis, exercise intolerance | (21) |
| BOLA3 | 613183 | Iron-sulfur cluster biosynthesis | 2p13.1 | AR | encephalomyopathy, cardiomyopathy | (4) |
| NFU1 | 608100 | Iron-sulfur cluster biosynthesis | 2p13.3 | AR | lactic acidosismultiple respiratory chain deficiency | (4) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| COQ2 | 609825 | CoQ10 deficiency | 4q21-q22 | AR | Encephalomyopathy, nephropathy | (38) |
| COQ4 | 612898 | CoQ10 deficiency | 9q34.13 | AR | Encephalomyopathy, mental retardation | (2) |
| COQ9 | 612837 | CoQ10 deficiency | 16q13 | AR | Neonatal lactic acidosis Seizures, cardiomyopathy | (9) |
| APTX | 606350 | CoQ10 deficiency | 9p13.3 | AR | Cerebellar ataxia oculomotor apraxia | (46) |
| PDSS1 | 607429 | CoQ10 deficiency | 10p12.1 | AR | Deafness, valvulopathy, mental retardation | (29) |
| PDSS2 | 610564 | CoQ10 deficiency | 6q21 | AR | LS, nephrotic syndrome | (37) |
| CABC1 | 606980 | CoQ10 deficiency | 1q42.2 | AR | Cerebellar ataxia, lactic acidosis | (22) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| SPG7 | 607259 | Paraplegin ATPase protease | 16q24.3 | AR | Spastic paraplegia | (74) |
| HSPD1 | 118190 | Mitochondrial chaperone | 2q33.1 | AR | Spastic paraplegia, leukodystrophy | (20) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| OPA1 | 165500 | Dynamin-related protein | 3q28-q29 | AD | AD-Optic Atrophy Multiple deletions |
(67,68) (17) |
| MFN2 | 609260 | Mitofusin Mitochondrial fusion | 1p36-p35 | AD | Charcot-Marie-Tooth Disease-2A2 (CMT2A2?) Multiple deletions |
(44,54) (1) |
| DLP1 | 603850 | Mitochondrial and peroxisomal fission | 12p11.21 | AD | Microcephaly, abnormal brain development, optic atrophy, lactic acidosis | (34) |
| G4.5 (Tafazzin) | 302060 | Cardiolipin defect | Xq28 | X-linked | Barth syndrome, X-linked dilated cardiomyopathy | (77,79) |
| RMRP | 250250 | RNAse Mitochondrial RNA Processing | 9p13-p12 | AR | Metaphyseal chondrodysplasia or Cartilage-hair hypoplasia | (58,62) |
| Name | OMIM | Function | Chromosome | Inheritance | Clinical Phenotype | References |
| PDHA1 | 308930 | Pyruvate dehydrogenase E1-α subunit | Xp22.2-p22.1 | X-linked | LS | (82) |
| ETHE1 | 602473 | Ethylmalonic acid metabolism | 19q13 | AR | Encephalopathy, ethylmalonic aciduria | (41,53) |
| PUS1 | 600462 | pseudouridine synthase | 12q24.33 | AR | myopathy, lactic acidosis, and sideroblastic anemia | (47) |
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