Gene: COX4I1

Alternate names for this Gene: COX IV-1|COX4|COX4-1|COXIV|COXIV-1|MC4DN16

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.1

Description of this Gene: cytochrome c oxidase subunit 4I1

Type of Gene: protein-coding

rs2733954 in COX4I1 gene and Leprosy PMID 25642632 2015 Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.