Aliases for COX4I1 Gene
External Ids for COX4I1 Gene
Previous HGNC Symbols for COX4I1 Gene
Previous GeneCards Identifiers for COX4I1 Gene
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
GeneCards Summary for COX4I1 Gene
COX4I1 (Cytochrome C Oxidase Subunit 4I1) is a Protein Coding gene. Diseases associated with COX4I1 include Calvarial Hyperostosis and Johanson-Blizzard Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX4I2.
UniProtKB/Swiss-Prot Summary for COX4I1 Gene
This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.