NDUFA9

NDUFA9
Identifiers
Aliases	NDUFA9, CC6, CI-39k, CI39k, NDUFS2L, SDR22E1, NADH:ubiquinone oxidoreductase subunit A9, MC1DN26, COQ11
External IDs	OMIM: 603834; MGI: 1913358; HomoloGene: 3666; GeneCards: NDUFA9; OMA:NDUFA9 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	4,694,317 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	126,826,099 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; mucosa of transverse colon; ; left ventricle; ; muscle of thigh; ; right auricle of heart; ; rectum; ; gastrocnemius muscle; ; triceps brachii muscle; ; right ventricle; ; olfactory zone of nasal mucosa;
	Top expressed in
	interventricular septum; ; soleus muscle; ; myocardium of ventricle; ; extraocular muscle; ; plantaris muscle; ; cardiac muscle tissue of left ventricle; ; digastric muscle; ; thoracic diaphragm; ; sternocleidomastoid muscle; ; extensor digitorum longus muscle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein-containing complex binding; NADH dehydrogenase (ubiquinone) activity; protein binding; catalytic activity; NADH dehydrogenase activity;
Cellular component	mitochondrial respiratory chain complex I; mitochondrial matrix; respirasome; mitochondrial membranes; mitochondrion; nucleus; nucleoplasm;
Biological process	sodium ion transport; ubiquinone-6 biosynthetic process; mitochondrial electron transport, NADH to ubiquinone; mitochondrial respiratory chain complex I assembly; circadian rhythm; response to glucose;
	Sources:Amigo / QuickGO
Orthologs
	4704
	66108
	ENSG00000139180
	ENSMUSG00000000399
	Q16795
	Q9DC69
	NM_005002
	NM_025358
	NP_004993
	NP_079634
	Wikidata
View/Edit Human	View/Edit Mouse

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9 is an enzyme that in humans is encoded by the NDUFA9 gene. The NDUFA9 protein is a subunit of NADH:ubiquinone oxidoreductase (Complex I of the electron transport chain), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in NADH dehydrogenase (ubiquinone), also known as Complex I, frequently lead to complex neurodegenerative diseases such as Leigh's syndrome. In the case of NDUFA9, a mutation to the MT-ND3 gene might interrupt their interaction and formation of subcomplexes, compromising Complex I function and leading to disease.