UQCC3

UQCC3
Identifiers
Aliases	UQCC3, C11orf83, CCDS41658.1, UNQ655, MC3DN9, ubiquinol-cytochrome c reductase complex assembly factor 3
External IDs	OMIM: 616097; MGI: 2147553; HomoloGene: 84061; GeneCards: UQCC3; OMA:UQCC3 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	62,673,686 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	8,858,287 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; skin of arm; ; mucosa of transverse colon; ; gingival epithelium; ; gonad; ; tendon of biceps brachii; ; palpebral conjunctiva; ; parotid gland; ; right adrenal cortex; ; muscle of thigh;
	Top expressed in
	neural layer of retina; ; yolk sac; ; morula; ; right kidney; ; muscle of thigh; ; triceps brachii muscle; ; proximal tubule; ; embryo; ; temporal muscle; ; medial head of gastrocnemius muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	phosphatidic acid binding; cardiolipin binding;
Cellular component	mitochondrial respiratory chain complex III; mitochondrial inner membrane; integral component of membrane; membrane; mitochondrion; integral component of mitochondrial inner membrane;
Biological process	mitochondrial electron transport, ubiquinol to cytochrome c; cristae formation; ATP biosynthetic process; mitochondrial respiratory chain complex III assembly;
	Sources:Amigo / QuickGO
Orthologs
	790955
	107197
	ENSG00000204922
	ENSMUSG00000071654
	Q6UW78
	Q8K2T4
	NM_001085372
	NM_001160356
	NP_001078841
	NP_001153828
	Wikidata
View/Edit Human	View/Edit Mouse

Ubiquinol-cytochrome c reductase complex assembly factor 3 is a protein that in humans is encoded by the UQCC3 gene. Located in mitochondria, this protein is involved in the assembly of mitochondrial Complex III, stabilizing supercomplexes containing Complex III. Mutations in the UQCC3 gene cause Complex III deficiency with symptoms of hypoglycemia, hypotonia, lactic acidosis, and developmental delays. This protein plays an important role as an antiviral factor, bolstering the ability of cells to inhibit viral replication, independent of interferon production. The UQCC3 protein can be cleaved by OMA1 metalloprotease during mitochondrial depolarization, targeting the cell for apoptosis. Depletion of this protein alters cardiolipin composition, causing cellular and mitochondrial defects.