NDUFV2

NDUFV2
Identifiers
Aliases	NDUFV2, CI-24k, NADH:ubiquinone oxidoreductase core subunit V2, MC1DN7
External IDs	OMIM: 600532; MGI: 1920150; HomoloGene: 10884; GeneCards: NDUFV2; OMA:NDUFV2 - orthologs
Gene location (Human)
Chr.	Chromosome 18 (human)
End	9,134,345 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	66,408,554 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; gastrocnemius muscle; ; muscle of thigh; ; right lobe of liver; ; left ventricle; ; right auricle of heart; ; right adrenal gland; ; olfactory zone of nasal mucosa; ; right adrenal cortex; ; left adrenal gland;
	Top expressed in
	interventricular septum; ; myocardium of ventricle; ; extensor digitorum longus muscle; ; intercostal muscle; ; cardiac muscle tissue of left ventricle; ; digastric muscle; ; soleus muscle; ; plantaris muscle; ; sternocleidomastoid muscle; ; temporal muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	NADH dehydrogenase activity; electron transfer activity; NADH dehydrogenase (ubiquinone) activity; oxidoreductase activity; iron-sulfur cluster binding; metal ion binding; 2 iron, 2 sulfur cluster binding; protein binding;
Cellular component	membrane; mitochondrial inner membrane; myelin sheath; mitochondrial respiratory chain complex I; respirasome; mitochondrion; plasma membrane respiratory chain complex I;
Biological process	nervous system development; cardiac muscle tissue development; mitochondrial respiratory chain complex I assembly; mitochondrial electron transport, NADH to ubiquinone;
	Sources:Amigo / QuickGO
Orthologs
	4729
	72900
	ENSG00000178127
	ENSMUSG00000024099
	P19404
	Q9D6J6
	NM_021074
	NM_001278415; NM_028388
	NP_066552
	NP_001265344; NP_082664
	Wikidata
View/Edit Human	View/Edit Mouse

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (NDUFV2) is an enzyme that in humans is encoded by the NDUFV2 gene. The encoded protein, NDUFV2, is a subunit of complex I of the mitochondrial respiratory chain, which is located on the inner mitochondrial membrane and involved in oxidative phosphorylation. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy.