Disorders
Leigh Syndrome (nuclear DNA mutation)
Synonym(s): Leigh Disease, Leigh Syndrome Due to Cytochrome c Oxidase Deficiency
| Gene | Locus | Protein |
|---|---|---|
| BCS1L | 2q35 | Mitochondrial chaperone BCS1 |
| COX10 | 17p12 | |
| DLD | 7q31-q32 | Dihydrolipoyl dehydrogenase |
| MTFMT | 15q22.31 | |
| NDUFA1 | Xq24 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 |
| NDUFA10 | 2q37.3 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10 |
| NDUFAF2 | 5q12.1 | |
| NDUFAF6 | 8q22.1 | |
| NDUFS1 | 2q33-q34 | |
| NDUFS3 | 11p11.11 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 3 |
| NDUFS4 | 5q11.1 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 4 |
| NDUFS7 | 19p13 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 7 |
| NDUFS8 | 11q13.2 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 8 |
| NDUFV1 | 11q13 | |
| SCO1 | 17p13.1 | Protein SCO1 homolog |
| SCO2 | 22q13.33 | Protein SCO2 homolog |
| SDHA | 5p15 | Succinate dehydrogenase [ubiquinone] flavoprotein subunit |
| SURF1 | 9q33-q34 |





