NDUFA12

NDUFA12
Identifiers
Aliases	NDUFA12, B17.2, DAP13, NADH:ubiquinone oxidoreductase subunit A12, MC1DN23
External IDs	OMIM: 614530; MGI: 1913664; HomoloGene: 10314; GeneCards: NDUFA12; OMA:NDUFA12 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	95,003,748 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	94,057,305 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; tibialis anterior muscle; ; cardiac muscle tissue of right atrium; ; right ventricle; ; deltoid muscle; ; mucosa of ileum; ; vastus lateralis muscle; ; biceps brachii; ; muscle of thigh; ; Skeletal muscle tissue of rectus abdominis;
	Top expressed in
	right kidney; ; quadriceps femoris muscle; ; proximal tubule; ; skeletal muscle tissue; ; yolk sac; ; muscle of thigh; ; neural tube; ; heart; ; stomach; ; striatum of neuraxis;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	electron transfer activity; NADH dehydrogenase (ubiquinone) activity;
Cellular component	respirasome; membrane; mitochondrial inner membrane; mitochondrion; cytosol; mitochondrial respiratory chain complex I;
Biological process	response to oxidative stress; respiratory gaseous exchange by respiratory system; mitochondrial respiratory chain complex I assembly; mitochondrial ATP synthesis coupled electron transport; mitochondrial electron transport, NADH to ubiquinone;
	Sources:Amigo / QuickGO
Orthologs
	55967
	66414
	ENSG00000184752
	ENSMUSG00000020022
	Q9UI09
	Q7TMF3
	NM_018838; NM_001258338
	NM_025551; NM_001364691
	NP_001245267; NP_061326
	NP_079827; NP_001351620
	Wikidata
View/Edit Human	View/Edit Mouse

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 is an enzyme that in humans is encoded by the NDUFA12 gene. The NDUFA12 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in subunits of NADH dehydrogenase (ubiquinone), also known as Complex I, frequently lead to complex neurodegenerative diseases such as Leigh's syndrome that result from mitochondrial complex I deficiency.