Gene table of NDUFAF2 : NADH:ubiquinone oxidoreductase complex assembly factor 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with NDUFAF2OMIM linkNumber of associated genesgenes
252010MITOCHONDRIAL COMPLEX I DEFICIENCYOMIM link to OMIM 24MT-ND5, NDUFAF2, MT-ND6, NDUFS2, NDUFAF6, NDUFAF1, NDUFAF5, NDUFV1, NUBPL, NDUFS7, MT-ND1, NDUFS3, NDUFA1, NDUFS6, NDUFV2, NDUFAF4, MT-ND3, NDUFAF3, NDUFS1, NDUFB9, NDUFA11, NDUFS4, NDUFB3, FOXRED1
256000LEIGH SYNDROMEOMIM link to OMIM 27MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9

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Annotation of the gene NDUFAF2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
MetabolismR-HSA-14307282.34
Respiratory electron transportR-HSA-6111056.44
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.R-HSA-1632006.12
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.71
Associated GO terms for Molecular function
GO termGO IDGO IC
catalytic activityGO:00038241.05
NADH dehydrogenase (ubiquinone) activityGO:00081375.93
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptorGO:00166555.66
NADH dehydrogenase (quinone) activityGO:00501365.93
oxidoreductase activity, acting on NAD(P)HGO:00166515.13
oxidoreductase activityGO:00164913.12
NADH dehydrogenase activityGO:00039545.93
electron carrier activityGO:00090554.97