COX8A

Cytochrome c oxidase subunit 8A (COX8A) is a protein that in humans is encoded by the COX8A gene.^[5] Cytochrome c oxidase 8A is a subunit of the cytochrome c oxidase complex, also known as Complex IV. Mutations in the COX8A gene have been associated with complex IV deficiency with Leigh syndrome and epilepsy.^[6]

COX8A
Identifiers
Aliases	COX8A, COX, COX8, COX8-2, COX8L, VIII, VIII-L, cytochrome c oxidase subunit 8A, MC4DN15
External IDs	OMIM: 123870; MGI: 105959; HomoloGene: 3006; GeneCards: COX8A; OMA:COX8A - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.1 Start 63,974,620 bp[1] End 63,976,543 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 7,192,518 bp[2] End 7,194,981 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart mucosa of transverse colon left ventricle right auricle of heart renal medulla myocardium of left ventricle gastrocnemius muscle muscle of thigh human kidney right ventricle Top expressed in right kidney superior frontal gyrus primary visual cortex dentate gyrus of hippocampal formation granule cell cerebellar cortex yolk sac granulocyte embryo embryo pyloric antrum More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding cytochrome-c oxidase activity Cellular component integral component of membrane mitochondrial inner membrane mitochondrion mitochondrial respiratory chain complex IV membrane respiratory chain complex IV Biological process generation of precursor metabolites and energy mitochondrial electron transport, cytochrome c to oxygen proton transmembrane transport electron transport chain Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1351 12868 Ensembl ENSG00000176340 ENSMUSG00000035885 UniProt P10176 Q64445 RefSeq (mRNA) NM_004074 NM_007750 RefSeq (protein) NP_004065 NP_031776 Location (UCSC) Chr 11: 63.97 – 63.98 Mb Chr 19: 7.19 – 7.19 Mb PubMed search [3] [4]
Wikidata
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Structure

COX8A is a 7.6 kDa protein composed of 69 amino acids.^[7][8] This gene encodes the nuclear-encoded subunit 8A of the human mitochondrial respiratory chain enzyme complex cytochrome c oxidase. The complex consists of 13 mitochondrial- and nuclear-encoded subunits.^[5]

Function

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 mitochondrially-encoded subunits perform the electron transfer of 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.^[5]

Clinical significance

COX8A is a subunit of cytochrome c oxidase and its function is important for the efficacy of complex IV. Mutations in COX8A can affect complex IV of the electron transport chain, resulting in complex IV deficiency. This disorder can have a wide range of clinical manifestations including Leigh syndrome, leukodystrophy, and severe epilepsy.^[6]

Interactions

COX8A has been shown to have 19 binary protein-protein interactions including 7 co-complex interactions. COX8A appears to interact with NPM1, MAGEA4, EDDM3B, BATF, AMBP, CREB1, and NCOR1.^[9]