Publication for NDUFS4 and NDUFAF2

Species Symbol Function* Entrez Gene ID* Other ID Gene
coexpression
CoexViewer
hsa NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 4724 [link]
hsa NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 91942

Pubmed ID Priority Text
25857492 0.98 NDUFAF2, NDUFAF3, NDUFAF4, C8ORF38, C20ORF7) and nuclear encoded subunits of complex I (NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7) have been shown to cause different clinical phenotypes.
23702311 0.97 Ndufaf2 would explain its influence on the kinetics of assembly, the efficiency of the fully assembly Complex-1, and the association of Ndufaf2 with an Ndufs4-deficient intermediate.
0.96 NdufS4 deletion has been previously shown to cause a Complex-1 assembly defect, reduced Complex-1 activity, and the association of Ndufaf2 with a Complex-1 intermediate of approximately 830 kDa.
0.95 NdufS4 result in a severe encephalopathy, however, one that is phenotypically distinct from that seen in Ndufaf2 patients.
0.92 Ndufaf2 with this incomplete Complex-1 intermediate in NdufS4 KO cells (Fig. 2d), whereas we did not detect Ndufaf2 associated with WT Complex-1.
0.90 NdufS4 KO fibroblasts were extracted with 0.5% DDM, and analyzed on BN-PAGE and Western blot by probing for Ndufaf2.
0.73 Ndufaf2 KO and NdufS4 KO fibroblasts were extracted with 0.5% DDM.
19255735 0.96 NDUFS4, NDUFS6, NDUFA11, and NDUFA2, and complex I assembly factors NDUFAF2, NDUFAF1, and C6orf66.
20818383 0.96 NDUFS4, NDUFAF2, NDUFV1, and NDUFS8 (Table 3).
30245030 0.95 NDUFAF2, a late-stage complex I assembly factor, still bound to the stalled assembly intermediate (Figure S5); this has previously been observed as a consequence of pathogenic mutations affecting N-module subunits NDUFV1 (OMIM: 161015) and NDUFS4 (OMIM: 602694).



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