Isolated complex III deficiency
ORPHA:1460DiseaseAutosomal recessive, Mitochondrial inheritanceChildhood, Infancy, Neonatal
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BCS1L | BCS1 ubiquinol-cytochrome c reductase complex chaperone | Disease-causing germline mutation(s) in | gene with protein product | 603647 |
| MT-CYB | mitochondrially encoded cytochrome b | Disease-causing germline mutation(s) in | gene with protein product | 516020 |
| UQCRQ | ubiquinol-cytochrome c reductase complex III subunit VII | Disease-causing germline mutation(s) in | gene with protein product | 612080 |
| UQCRB | ubiquinol-cytochrome c reductase binding protein | Disease-causing germline mutation(s) in | gene with protein product | 191330 |
| TTC19 | tetratricopeptide repeat domain 19 | Disease-causing germline mutation(s) in | gene with protein product | 613814 |
| UQCRC2 | ubiquinol-cytochrome c reductase core protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 191329 |
| CYC1 | cytochrome c1 | Disease-causing germline mutation(s) in | gene with protein product | 123980 |
| LYRM7 | LYR motif containing 7 | Disease-causing germline mutation(s) in | gene with protein product | 615831 |
| UQCC2 | ubiquinol-cytochrome c reductase complex assembly factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 614461 |
| UQCC3 | ubiquinol-cytochrome c reductase complex assembly factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 616097 |
| UQCRFS1 | ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Disease-causing germline mutation(s) in | gene with protein product | 191327 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)