Table 3.
Nuclear gene defects that affect respiratory chain biogenesis
| Category | Gene | Renal phenotype | Refs |
|---|---|---|---|
| Structural subunits | None yet described | NA | NA |
|
| |||
| Electron carriers (including CoQ biosynthesis) | PDSS1 | SRNS | 73 |
| PDSS2 | SRNS | 72 | |
| COQ2 | SRNS | 71 | |
| COQ6 | SRNS | 68 | |
| ADCK4 | SRNS | 69 | |
| COQ9 | Tubulopathy | 44 | |
|
| |||
| Assembly factors | COX10 | Tubulopathy | 148 |
| SURF1 | Tubulopathy* | 149 | |
| BCS1L | Tubulopathy | 150 | |
| UQCC2 | Tubulopathy | 151 | |
| TMEM70 | Tubulopathy* | 152 | |
|
| |||
| mtDNA translation | MRPS22 | Tubulopathy | 153 |
| YARS2 | Tubulopathy | 154 | |
| SARS2 | Tubulopathy | 155 | |
|
| |||
| mtDNA maintenance | RRM2B | Tubulopathy | 156 |
| TWINKLE | Tubulopathy | 157 | |
| MPV17 | Tubulopathy | 158 | |
| SUCLA2 | Tubulopathy* | 159 | |
| DGUOK | Tubulopathy* | 160 | |
|
| |||
| Lipid milieu | None yet described | NA | NA |
|
| |||
| Mitochondrial dynamics | None yet described | NA | NA |
CoQ, coenzyme Q; mtDNA, mitochondrial DNA; NA, not applicable; SRNS, steroid-resistant nephrotic syndrome.
*
Occasional manifestation.