NDUFV1

NDUFV1
Identifiers
Aliases	NDUFV1, CI-51K, CI51KD, UQOR1, NADH:ubiquinone oxidoreductase core subunit V1, MC1DN4
External IDs	OMIM: 161015; MGI: 107851; HomoloGene: 5151; GeneCards: NDUFV1; OMA:NDUFV1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	67,612,554 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	4,062,806 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; right hemisphere of cerebellum; ; left ventricle; ; right auricle of heart; ; mucosa of transverse colon; ; right uterine tube; ; right lobe of thyroid gland; ; gastrocnemius muscle; ; right frontal lobe; ; left lobe of thyroid gland;
	Top expressed in
	soleus muscle; ; right ventricle; ; myocardium of ventricle; ; interventricular septum; ; tibialis anterior muscle; ; sternocleidomastoid muscle; ; digastric muscle; ; ankle; ; temporal muscle; ; choroid plexus of fourth ventricle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	oxidoreductase activity, acting on NAD(P)H; NADH dehydrogenase (ubiquinone) activity; oxidoreductase activity; iron-sulfur cluster binding; metal ion binding; NADH dehydrogenase activity; FMN binding; NAD binding; 4 iron, 4 sulfur cluster binding; protein binding;
Cellular component	mitochondrial inner membrane; mitochondrial respiratory chain complex I; respirasome; membrane; mitochondrion; cytosol;
Biological process	mitochondrial respiratory chain complex I assembly; mitochondrial electron transport, NADH to ubiquinone; mitochondrial ATP synthesis coupled electron transport; cellular respiration;
	Sources:Amigo / QuickGO
Orthologs
	4723
	17995
	ENSG00000167792
	ENSMUSG00000037916
	P49821
	Q91YT0
	NM_007103; NM_001166102
	NM_133666
	NP_001159574; NP_009034
	NP_598427
	Wikidata
View/Edit Human	View/Edit Mouse

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (NDUFV1) is an enzyme that in humans is encoded by the NDUFV1 gene. The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain. Defects in complex I are a common cause of mitochondrial dysfunction. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome.