NDUFAF6 information

NDUFAF6
Identifiers
Aliases	NDUFAF6, C8orf38, NADH:ubiquinone oxidoreductase complex assembly factor 6
External IDs	OMIM: 612392; MGI: 1924197; HomoloGene: 43831; GeneCards: NDUFAF6; OMA:NDUFAF6 - orthologs
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	11,076,205 bp
Gene ontology
Molecular function	transferase activity;
Cellular component	nucleus; membrane; cytoplasm; mitochondrion; mitochondrial inner membrane;
Biological process	mitochondrial respiratory chain complex I assembly; biosynthesis;
	Sources:Amigo / QuickGO
Orthologs
	137682
	76947
	ENSG00000156170
	ENSMUSG00000050323
	Q330K2
	A2AIL4
	NM_152416; NM_001330582
	NM_001085493
NP_001317511; NP_689629; NP_001341443; NP_001341444; NP_001341445;
	NP_001341446; NP_001341447; NP_001341448; NP_001341450; NP_001341451; NP_001341453; NP_001341456; NP_001341457; NP_001341458; NP_001341460; NP_001341461; NP_001341462; NP_001341463; NP_001341454; NP_001341459
	NP_001078962
	Wikidata
View/Edit Human	View/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.^[4] Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.^[5]

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000050323 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: NADH:ubiquinone oxidoreductase complex assembly factor 6". Retrieved 2018-07-25.
^ Cite error: The named reference :1 was invoked but never defined (see the help page).

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000050323 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: NADH:ubiquinone oxidoreductase complex assembly factor 6". Retrieved 2018-07-25.

[:1-5] Cite error: The named reference :1 was invoked but never defined (see the help page).

NDUFAF6 information

and 3 Related for: NDUFAF6 information

NDUFAF6

Mitochondrial myopathy

Leigh syndrome