Table 2.
TABLE 2. Mitochondrial defects caused by nuclear encoded genes.
| Mitochondrial defects - nuclear encoded (nDNA) 60 | ||||||
| OXPHOS (structural proteins and assembly factors) | ||||||
| Complex I | Complex II | Complex III | Complex IV | Complex V | ||
| NDUFS1 | NDUFS2 | SDH-A | CYC1 | COX4I1 | COX4I2 | ATP5E |
| NDUFS3 | NDUFS4 | SDH-B | UQCRC2 | COX5A | COX6B1 | ATP5A1 |
| NDUFS6 | NDUFS7 | SDH-C | UQCRB | COX6A1 | COX8A | ATP8A2 |
| NDUFS8 | NDUFB3 | SDH-D | UQCRQ | COX7B | COX15 | ATPAF2 |
| NDUFB9 | NDUFB10 | SDHAF1 | BCS1L | SURF1 | COX20 | TMEM70 |
| NDUFB11 | NDUFV1 | SDHF2 | LYRM7 | SCO1 | COA3 | |
| NDUFA2 | NDUFA9 | UQCC2 | SCO2 | COA5 | ||
| NDUFA10 | NDUFA11 | UQCC3 | COX10 | COA6 | ||
| NDUFA12 | NDUFA13 | COX14 | COA7 | |||
| NDUFAF1 | NDUFAF2 | PET100 | LRPPRC | |||
| NDUFAF3 | NDUFAF4 | APOPT1 | FASTKD2 | |||
| NDUFAF5 | NDUFAF6 | TACO1 | ||||
| NUBPL | FOXRED | |||||
| ACAD9 | ||||||
| mtDNA maintenance | ||||||
| POLG | POLG2 | ANT1 | MPV17 | OPA1 | MFN2 | C10ORF2 |
| FBXL4 | FBXL4 | RRM2B | SUCLA2 | SUCLG1 | TK2 | TFAM |
| MGME1 | ||||||
| Mitochondrial Import | ||||||
| DDP | DNAJC19 | |||||
| Mitochondrial Protein Synthesis | ||||||
| AARS2 | CARS2 | DARS2 | EARS2 | FARS2 | GARS2 | HARS2 |
| IARS2 | KARS | LARS | LARS2 | NARS2 | PARS2 | RARS2 |
| SARS2 | TARS2 | VARS2 | YARS2 | EFG1 | TSFM | TUFM |
| GTPBP3 | MTFMT | MTO1 | TRMT5 | TRMT10C | TRMU | GFM1 |
| GFM2 | C12orf65 | RMND1 | MRPL3 | MRPS7 | MRPL12 | MRPS16 |
| MRPS22 | MRPL44 | PUS1 | ||||
| Iron Homeostasis | ||||||
| FRDA | ABCB7 | GLRX5 | ISCU | BOLA3 | NFU1 | ISCA2 |
| IBA57 | LYRM4 | LYRM7 | FDXL1 | |||
| Coenzyme Q10 biogenesis | ||||||
| COQ2 | COQ4 | COQ5 | COQ6 | COQ7 | COQ9 | APTX |
| PDSS1 | PDSS2 | CABC1 | ||||
| Mitochondrial quality control | ||||||
| SPG7 | AFG3L2 | |||||
| Mitochondrial Integrity | ||||||
| DLP1 | TAZ1 | RMRP | ||||
| Mitochondrial Metabolism | ||||||
| PDHA1 | ETHE1 | ATAD3 | ||||