cytochrome c oxidase subunit 4I2
Annotations refreshed 9 hours ago.
Moderate Evidence (Amber)
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex IV deficiency
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomalPancreatic insufficiency - anemia - hyperostosis
pancreatic insufficiency-anemia-hyperostosis syndrome
Congenital pulmonary alveolar proteinosis
primary ciliary dyskinesia
glioma
central nervous system cancer
Neonatal acute respiratory distress with surfactant metabolism deficiency
clonal hematopoiesis
bronchiolitis obliterans syndrome
colorectal carcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix
COX4I2 · Q96KJ9
Mean pLDDT
79.6/ 100
Confident
171 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
