Entity Details

Primary name UQCC3
Entity type gene
Source Source Link

Details

PrimaryID790955
RefseqGeneNG_041802
SymbolUQCC3
Nameubiquinol-cytochrome c reductase complex assembly factor 3
Chromosome11
Location11q12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2006-12-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsUQCC3_HUMAN

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c
GO:0006754 ATP biosynthetic process
GO:0031305 integral component of mitochondrial inner membrane
GO:0034551 mitochondrial respiratory chain complex III assembly
GO:0042407 cristae formation
GO:0070300 phosphatidic acid binding
GO:1901612 cardiolipin binding

Diseases

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Disease IDSourceNameDescription
616111 OMIMMitochondrial complex III deficiency, nuclear 9 (MC3DN9)A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development. The disease is caused by variants affecting the gene represented in this entry.