NDUFAF2

NDUFAF2
Identifiers
Aliases	NDUFAF2, B17.2L, MMTN, NDUFA12L, mimitin, NADH:ubiquinone oxidoreductase complex assembly factor 2, MC1DN10
External IDs	OMIM: 609653; MGI: 1922847; HomoloGene: 18372; GeneCards: NDUFAF2; OMA:NDUFAF2 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	61,154,531 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	108,295,157 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; gastrocnemius muscle; ; tibial arteries; ; islet of Langerhans; ; left coronary artery; ; left ventricle; ; muscle layer of sigmoid colon; ; right auricle of heart; ; nucleus accumbens; ; ascending aorta;
	Top expressed in
	hand; ; facial motor nucleus; ; yolk sac; ; maxillary prominence; ; mandibular prominence; ; medial vestibular nucleus; ; deep cerebellar nuclei; ; zygote; ; seminiferous tubule; ; supraoptic nucleus;
	More reference expression data
	n/a
Gene ontology
Molecular function	electron transfer activity; NADH dehydrogenase (ubiquinone) activity;
Cellular component	mitochondrial inner membrane; membrane; mitochondrion;
Biological process	cellular respiration; negative regulation of insulin secretion involved in cellular response to glucose stimulus; reactive oxygen species metabolic process; mitochondrial respiratory chain complex I assembly; respiratory electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	91942
	75597
	ENSG00000164182
	ENSMUSG00000068184
	Q8N183
	Q59J78
	NM_174889
	NM_001127346; NM_001360140
	NP_777549
	NP_001120818; NP_001347069
	Wikidata
View/Edit Human	View/Edit Mouse

NADH:ubiquinone oxidoreductase complex assembly factor 2 (NDUFAF2), also known as B17.2L or NDUFA12L, is a protein that in humans is encoded by the NDUFAF2, or B17.2L, gene. The NDUFAF2 protein is a chaperone involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in this gene have been associated with progressive encephalopathy and Leigh disease resulting from mitochondrial complex I deficiency.