UQCC2

UQCC2
Identifiers
Aliases	UQCC2, C6orf125, Cbp6, M19, MNF1, bA6B20.2, ubiquinol-cytochrome c reductase complex assembly factor 2, C6orf126, MC3DN7
External IDs	OMIM: 614461; MGI: 1914517; HomoloGene: 12105; GeneCards: UQCC2; OMA:UQCC2 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	33,711,727 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	27,352,890 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; right auricle of heart; ; left ventricle; ; right testis; ; left testis; ; myocardium of left ventricle; ; gastrocnemius muscle; ; muscle of thigh; ; anterior pituitary; ; islet of Langerhans;
	Top expressed in
	spermatid; ; spermatocyte; ; muscle of thigh; ; lip; ; dentate gyrus of hippocampal formation granule cell; ; superior frontal gyrus; ; yolk sac; ; interventricular septum; ; primary visual cortex; ; ventricular zone;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	mitochondrial inner membrane; mitochondrial matrix; mitochondrial intermembrane space; mitochondrial nucleoid; membrane; mitochondrion; nuclear body;
Biological process	regulation of oxidative phosphorylation; regulation of skeletal muscle cell differentiation; regulation of insulin secretion; positive regulation of mitochondrial translation; mitochondrial respiratory chain complex III assembly;
	Sources:Amigo / QuickGO
Orthologs
	84300
	67267
	ENSG00000137288
	ENSMUSG00000024208
	Q9BRT2
	Q9CQY6
	NM_032340
	NM_026063; NM_001364944
	NP_115716
	NP_080339; NP_001351873
	Wikidata
View/Edit Human	View/Edit Mouse

Ubiquinol-cytochrome c reductase complex assembly factor 2 is a protein that in humans is encoded by the UQCC2 gene. Located in the mitochondrial nucleoid, this protein is a complex III assembly factor, playing a role in cytochrome b biogenesis along with the UQCC1 protein. It regulates insulin secretion and mitochondrial ATP production and oxygen consumption. In the sole recorded case, a mutation in the UQCC2 gene caused Complex III deficiency, characterized by intrauterine growth retardation, neonatal lactic acidosis, and renal tubular dysfunction.