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 AMPK Enzyme Complex Pathway. 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.