Table 2.
Genes in which mutation results in a mitochondrial disorder
| RESPIRATORY COMPLEX I (NADH-CO Q REDUCTASE) DEFICIENCY |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR MUTATIONS [OMIM #252010] |
| ---C20ORF7; chromosome 20 open reading frame 7 [OMIM *612360] |
| ---NDUFA1; NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 1 [OMIM *300078] |
| ---NDUFA11; NADH dehydrogenase 1 alpha subcomplex, 11 [OMIM *612638] |
| ---NDUFAF1; NADH dehydrogenase 1 alpha subcomplex, assembly factor 1 [OMIM *606934] |
| ---NDUFAF2; NADH dehydrogenase 1 alpha subcomplex, assembly factor 2 [OMIM *609653] |
| ---NDUFAF3; NADH dehydrogenase 1 alpha subcomplex, assembly factor 3 [OMIM *612911] |
| ---NDUFB3; NADH-ubiquinone oxidoreductase 1 beta subcomplex, 3 [OMIM *603839] |
| ---NDUFS1; NADH-ubiquinone oxidoreductase Fe-S protein 1 [OMIM*157655] |
| ---NDUFS2; NADH-ubiquinone oxidoreductase Fe-S protein 2 [OMIM *602985] |
| ---NDUFS4; NADH-ubiquinone oxidoreductase Fe-S protein 4 [OMIM *602694] |
| ---NDUFS6; NADH-ubiquinone oxidoreductase fe-s protein 6 [OMIM *603848] |
| ---NDUFV1; NADH-ubiquinone oxidoreductase flavoprotein 1 [OMIM *161015] |
| ---NDUFV2; NADH-ubiquinone oxidoreductase flavoprotein 2 [OMIM *600532] |
| ---NUBPL; nucleotide-binding protein-like protein [OMIM *613621] |
| MT DNA COMPLEX I, MITOCHONDRIAL DNA MUTATIONS |
| ---Complex I, subunit ND1; MTND1 [OMIM *516000] |
| ---Complex I, subunit ND2; MTND2 [OMIM*516001] |
| ---Complex I, subunit ND3; MTND3 [OMIM *516002] |
| ---Complex I, subunit ND4; MTND4 [OMIM *516003] |
| ---Complex I, subunit ND4L; MTND4L [OMIM *516004] |
| ---Complex I, subunit ND5; MTND5 [OMIM *516005] |
| ---Complex I, subunit ND6; MTND6 [OMIM *516006] |
| RESPIRATORY COMPLEX II (SUCCINATE DEHYDROGENASE) DEFICIENCY |
| ---Mitochondrial complex ii deficiency, nuclear mutations [OMIM #252011] |
| RESPIRATORY COMPLEX III (CYTOCHROME B) DEFICIENCY |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR MUTATIONS [OMIM # 124000] |
| ---BCS1L; BCS1, S. cerevisiae, homolog-like [OMIM # 603647] |
| ---TTC19; tetratricopeptide repeat domain 19 [OMIM *613814] |
| ---UQCRB; ubiquinol-cytochrome c reductase-binding protein [OMIM *191330 ] |
| ---UQCRQ; ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5-KD [OMIM *612080] |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, MITOCHONDRIAL MUTATIONS |
| ---Cytochrome b of complex III; MTCYB [OMIM *516020] |
| RESPIRATORY COMPLEX IV (CYTOCHROME C OXIDASE) DEFICIENCY |
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR MUTATIONS [OMIM #220110] |
| ---Chromosome 2 open reading frame 64; C2ORF64 [OMIM #613920 ] |
| ---Chromosome 12 open reading frame 62; C12ORF62 [OMIM #614478] |
| ---Cytochrome c oxidase, subunit VIb, polypeptide 1; COX6B1 [OMIM #124089] |
| ---Cytochrome c oxidase assembly protein COX10; COX10 [OMIM #602125] |
| ---Cytochrome c oxidase assembly protein COX15; COX15 [OMIM *603646] |
| ---Cytochrome c oxidase assembly protein COX17; COX17 [OMIM *604813] |
| ---Fast kinase domain-containing protein 2; FASTKD2 [OMIM #612322 ] |
| ---Leucine-rich PPR motif-containing protein; LRPPRC [OMIM #607544] |
| ---SCO1, S. cerevisiae, homolog of; SCO1 [OMIM # 603644] |
| ---SCO2, S. cerevisiae, homolog of; SCO2 [OMIM # 604272] |
| ---Surfeit 1; SURF1 [OMIM #185620] |
| ---TACO1 ; Translational activator of mitochondrially encoded cytochrome c oxidase subunit I [OMIM # 612958] |
| MITOCHONDRIAL MUTATIONS CAUSING COMPLEX IV DEFICIENCY |
| ---Complex IV, cytochrome c oxidase subunit I; MTCO1 [OMIM *516030] |
| ---Complex IV, cytochrome c oxidase subunit II; MTCO2 [OMIM *516040] |
| ---Cytochrome c oxidase, cytochrome c oxidase subunit III; MTCO3 [OMIM *516050] |
| ---Mitochondrial tRNA(ser); MTTS1 [OMIM #590080] |
| ---Mitochondrial tRNA(leu); MTTL1 [OMIM #590050] |
| RESPIRATORY COMPLEX V (ATP SYNTHASE) DEFICIENCY |
| COMPLEX V, NUCLEAR MUTATIONS |
| ---Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; MC5DN1 [OMIM #604273] |
| ---Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; MC5DN2 [OMIM #614052] |
| ---Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; MC5DN3 [OMIM #614053] |
| COMPLEX V, MITOCHONDRIAL MUTATIONS |
| ---ATP synthase 6; MTATP6 [OMIM +516060] |
| ---ATP synthase 8; MTATP8 [OMIM +516070] |
| NUCLEAR MUTATIONS CAUSING DEPLETION OF MITOCHONDRIAL DNA |
| ---DNA polymerase gamma; POLG [OMIM *174763] |
| ---Deoxyguanosine kinase; DGUOK [OMIM *601465] |
| ---MPV17, mouse, homolog of; MPV17 [OMIM *137960] |
| ---Ribonucleotide reductase, M2 B; RRM2B [OMIM *604712] |
| ---Succinate-CoA ligase, alpha subunit; SUCLG1 [OMIM *611224] |
| ---Succinate-CoA ligase, ADP-forming, beta subunit; SUCLA2 [OMIM *603921] |
| ---Thymidine kinase, mitochondrial; TK2 [OMIM *188250] |
| ---Thymidine phosphorylase: TYMP [OMIM *131222] |
| ---TWINKLE; chromosome 10 open reading frame 2; C10ORF2; TWINKY [OMIM *606075] |
| OTHER NUCLEAR MUTATIONS |
| ---AARF domain-containing kinase 3; ADCK3 [OMIM *606980] |
| ---Adenine nucleotide translocator; solute carrier family 25 , member 4; SLC25A4 [OMIM *103220] |
| ---COQ2, S. Cerevisiae, homolog of; COQ2; Parahydroxybenzoate-Polyprenyltransferase, Mitochondrial [OMIM *609825] |
| ---COQ6, S. Cerevisiae, homolog of; COQ6 [OMIM *614647] |
| ---COQ9, S. Cerevisiae, homolog of; COQ9 [OMIM *612837] |
| ---DNA polymerase gamma-2; POLG2 [OMIM *604983] |
| ---Frataxin [OMIM *606829] |
| ---Prenyl diphosphate synthase, subunit 1;PDSS1 [OMIM *607429] |
| ---Prenyl diphosphate synthase, subunit 2; PDSS2 [OMIM *610564] |
| PYRUVATE DEHYDROGENASE COMPLEX |
| ---Pyruvate dehydrogenase, beta polypeptide; PDHB [OMIM *179060] |
| ---Lipoic acid synthase; LIAS [OMIM *607031] |
| ---Pyruvate dehydrogenase phosphatase catalytic subunit 1; PDP1 [OMIM *605993] |
| ---Pyruvate dehydrogenase complex, component X; PDHX [OMIM *608769] |
| ---Pyruvate dehydrogenase, alpha polypeptide; PDHA1 [OMIM *300502] |
McKusick et al. [54]