Table 3.
Mutations in genes associated with mitochondrial CIII deficiency. Adapted and modified from [24] under the Creative Commons Attribution (CC BY) license. The symbol * in OMIM designates a gene code.
| Protein Name | Chromosome | Molecular Role | OMIM |
|---|---|---|---|
| Cytochrome b | mtDNA | Catalytic subunit | * 516020 |
| UQCRB | 8q22.1 | Accessory subunit | * 191330 |
| UQCRQ | 5q31.1 | Accessory subunit | * 612080 |
| UQCRC2 | 16p12.2 | Accessory subunit | * 191329 |
| CYC1 | 8q24.3 | Catalytic subunit | * 123980 |
| TTC19 | 17p12 | Unknown | * 613814 |
| BCS1L | 2q35 | UQCRFS1 translocase | * 603647 |
| MZM1L | 5q23.3-q31.1 | UQCRFS1 chaperone | * 615831 |
| UQCC2 | 6p21.31 | MT-CYB translational activator and chaperone | * 614461 |
| UQCC3 | 11q12.3 | MT-CYB chaperone | * 616097 |