Aliases for COX4I2 Gene
External Ids for COX4I2 Gene
Previous HGNC Symbols for COX4I2 Gene
Previous GeneCards Identifiers for COX4I2 Gene
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]
GeneCards Summary for COX4I2 Gene
COX4I2 (Cytochrome C Oxidase Subunit 4I2) is a Protein Coding gene. Diseases associated with COX4I2 include Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis and Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX4I1.
UniProtKB/Swiss-Prot for COX4I2 Gene
This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.