COX4I1
COX4I1 (Cytochrome C Oxidase Subunit 4I1) is a Protein Coding gene. Diseases associated with COX4I1 include Calvarial Hyperostosis and Exocrine Pancreatic Insufficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX4I2.
Full Name
Cytochrome C Oxidase Subunit 4I1
Alternative Names
Cytochrome C Oxidase Subunit 4I1; Cytochrome C Oxidase Subunit IV Isoform 1; Cytochrome C Oxidase Polypeptide IV; Cytochrome C Oxidase Subunit IV; COX IV-1; COX4;
Function
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 subunbit 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.
Biological Process
Generation of precursor metabolites and energy Source: ProtInc
Mitochondrial electron transport, cytochrome c to oxygen Source: GO_Central
Response to nutrient Source: Ensembl
Cellular Location
Mitochondrion inner membrane
Involvement in disease
Mitochondrial complex IV deficiency, nuclear type 16 (MC4DN16):
An autosomal recessive mitochondrial disorder with onset in infancy and variable manifestations. MC4DN16 features include feeding difficulties, poor overall growth, short stature, microcephaly, developmental regression, severe hypotonia, and seizures. Cerebral and cerebellar atrophy, and abnormal lesions in the basal ganglia can be observed on brain imaging. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
Topology
Mitochondrial matrix: 23-98
Helical: 99-124
Mitochondrial intermembrane: 125-169
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