Entity Details

Primary name COX4I2
Entity type gene
Source Source Link

Details

PrimaryID84701
RefseqGeneNG_012180
SymbolCOX4I2
Namecytochrome c oxidase subunit 4I2
Chromosome20
Location20q11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCOX42_HUMAN

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005751 mitochondrial respiratory chain complex IV
GO:0006091 generation of precursor metabolites and energy
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0016021 integral component of membrane
GO:0045333 cellular respiration
GO:0071456 cellular response to hypoxia

Diseases

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Disease IDSourceNameDescription
612714 OMIMExocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH)Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions