Entity Details

Primary name COA5
Entity type gene
Source Source Link

Details

PrimaryID493753
RefseqGeneNG_031918
SymbolCOA5
Namecytochrome c oxidase assembly factor 5
Chromosome2
Location2q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCOA5_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005739 mitochondrion
GO:0033617 mitochondrial cytochrome c oxidase assembly

Diseases

Show/Hide Table
Disease IDSourceNameDescription
616500 OMIMMitochondrial complex IV deficiency, nuclear type 9 (MC4DN9)An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, and characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
COA5KRT31BioGRID, IntAct25416956 details
COA5CYSRT1BioGRID, IntAct32296183 details
COA5TCF4BioGRID, IntAct32296183 details
COA5APPBioGRID21832049 details
COA5KRTAP1-3BioGRID32296183 details
COA5PTBP3MINT22575643 details