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Proteins/UNIPROT:Q330K2

NDUFAF6

Protein·UNIPROT:Q330K2

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Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1..

Function from UniProtKB (Q330K2), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

Inferred

Inferred — not reported by a source. Evidence key

GenCC submitters' classifications

4 rows

Leigh syndrome has a germline basis in NDUFAF6DiseaseGenCC HGNC:28625|MONDO:0009723Inferred only
mitochondrial complex I deficiency, nuclear type 17 has a germline basis in NDUFAF6DiseaseGenCC HGNC:28625|MONDO:0032622Inferred only
mitochondrial disease has a germline basis in NDUFAF6DiseaseGenCC HGNC:28625|MONDO:0044970Inferred only
primary Fanconi syndrome has a germline basis in NDUFAF6DiseaseGenCC HGNC:28625|MONDO:0007600Inferred only

Statements

5 statements

5 statements · 2 reference databases · Subject: NDUFAF6 · Sources: Hetionet, Reactome

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NDUFAF6 covaries with SPHK2ProteinHetionet hetionet:covaries:137682-56848Inferred only
NDUFAF6 participates in Aerobic respiration and respiratory electron transportPathwayReactome R-HSA-1428517Inferred only
NDUFAF6 participates in Complex I biogenesisPathwayReactome R-HSA-6799198Inferred only
NDUFAF6 participates in MetabolismPathwayReactome R-HSA-1430728Inferred only
NDUFAF6 participates in Respiratory electron transportPathwayReactome R-HSA-611105Inferred only

Other names

4 names

Resolves to: NDUFAF6

Also called: C8orf38complex I, assembly factor 6Putative phytoene synthaseubiquinone

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