Details for Gene NDUFS8

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

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