COX4I1 Chromosome 16

Cytochrome c oxidase subunit 4I1
3 variants 3 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000131143
Associated Conditions (3)
Mitochondrial complex IV deficiency
nuclear type 1
nuclear type 16
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS149461099 Health Risk Conflicting classifications of pathogenicity
RS1906146144 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
RS1906247824 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 16, Mitochondrial complex IV deficiency
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