COX4I2 Chromosome 20
Cytochrome c oxidase subunit 4I2
Upload your DNA to see your personal genotypes for variants in COX4I2.
What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
20q11.21
Ensembl
ENSG00000131055
Associated Conditions (1)
Pancreatic insufficiency-anemia-hyperostosis syndrome
Key Variants
RS145481393
Conflicting classifications of pathogenicity
Pancreatic insufficiency-anemia-hyperostosis syndrome, Pancreatic insufficiency-anemia-hyperostosis syndrome
Health Risk
RS147223483
Conflicting classifications of pathogenicity
Pancreatic insufficiency-anemia-hyperostosis syndrome, Pancreatic insufficiency-anemia-hyperostosis syndrome
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145481393 | Health Risk | Conflicting classifications of pathogenicity | Pancreatic insufficiency-anemia-hyperostosis syndrome, Pancreatic insufficiency-anemia-hyperostosis syndrome |
| RS147223483 | Health Risk | Conflicting classifications of pathogenicity | Pancreatic insufficiency-anemia-hyperostosis syndrome, Pancreatic insufficiency-anemia-hyperostosis syndrome |