NDUFAF6

NDUFAF6
Identifiers
AliasesNDUFAF6, C8orf38, NADH:ubiquinone oxidoreductase complex assembly factor 6
External IDsOMIM: 612392; MGI: 1924197; HomoloGene: 43831; GeneCards: NDUFAF6; OMA:NDUFAF6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

137682

76947

Ensembl

ENSG00000156170

ENSMUSG00000050323

UniProt

Q330K2

A2AIL4

RefSeq (mRNA)

NM_152416
NM_001330582

NM_001085493

RefSeq (protein)

NP_001078962

Location (UCSC)n/aChr 4: 11.05 – 11.08 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is involved in the assembly of complex I in the mitochondrial electron transport chain. Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.