GENE NAME | NDUFS8 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000110717 |
UNIPROT ACCESSION NUMBER | O00217 |
GO MOLECULAR FUNCTION | ['NADH dehydrogenase (ubiquinone) activity', '4 iron, 4 sulfur cluster binding', 'protein binding', 'metal ion binding', 'NADH dehydrogenase activity'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa00190; hsa01100; hsa04714; hsa04723; hsa04932; hsa05010; hsa05012; hsa05014; hsa05016; hsa05020; hsa05022; R-HSA-1428517; R-HSA-1430728; R-HSA-163200; R-HSA-611105; R-HSA-6799198 |
2 combinations linked to NDUFS8 | OLI809; OLI1589 |
3 variants linked to NDUFS8 | NDUFS8:p.Ile126Val; NDUFS8:p.Arg2Cys; NDUFS8:c.484G>T, p.Val162Leu |
2 diseases linked to NDUFS8 | Recurrent exertional rhabdomyolysis; Leigh syndrome |