NDUFAF4

NDUFAF4
Identifiers
Aliases	NDUFAF4, C6orf66, HRPAP20, My013, bA22L21.1, HSPC125, NADH:ubiquinone oxidoreductase complex assembly factor 4, MC1DN15
External IDs	OMIM: 611776; MGI: 1915743; HomoloGene: 40928; GeneCards: NDUFAF4; OMA:NDUFAF4 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	96,897,891 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	24,905,001 bp
RNA expression pattern
	Top expressed in
	Pons; ; lateral nuclear group of thalamus; ; right ventricle; ; left ventricle; ; endothelial cell; ; mucosa of transverse colon; ; biceps brachii; ; right auricle of heart; ; apex of heart; ; myocardium of left ventricle;
	Top expressed in
	atrioventricular valve; ; primary oocyte; ; endocardial cushion; ; digastric muscle; ; intercostal muscle; ; sternocleidomastoid muscle; ; temporal muscle; ; myocardium of ventricle; ; secondary oocyte; ; Paneth cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; calmodulin binding;
Cellular component	mitochondrial inner membrane; mitochondrial membranes; mitochondrion; membrane;
Biological process	NADH dehydrogenase complex assembly; mitochondrial respiratory chain complex I assembly;
	Sources:Amigo / QuickGO
Orthologs
	29078
	68493
	ENSG00000123545
	ENSMUSG00000028261
	Q9P032
	Q9D1H6
	NM_014165
	NM_026742
	NP_054884
	NP_081018
	Wikidata
View/Edit Human	View/Edit Mouse

NADH:ubiquinone oxidoreductase complex assembly factor 4, (NDUFAF4) also known as Hormone-regulated proliferation-associated protein of 20 kDa, (HRPAP20) or C6orf66 is a protein that in humans is encoded by the NDUFAF4 gene. NDUFAF4 is a mitochondrial assembly protein 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 complex I deficiency and infantile mitochondrial encephalomyopathy. Elevations in HRPAP20 have also been implicated in breast cancer.