COX4I2 Chromosome 20

Cytochrome c oxidase subunit 4I2
2 variants 2 Health Risk

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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
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
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