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COX5A
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{{Infobox gene | name = COX5A | symbol = COX5A | HGNCid = 2265 | OMIM = 123864 | EntrezGene = 9377 | RefSeq = NM_004255 | UniProt = P20674 | chromosome = 15 | arm = q | band = 24.1 }} '''COX5A''' is a gene that encodes the cytochrome c oxidase subunit 5A, which is a component of the [[cytochrome c oxidase]] complex (complex IV) in the [[mitochondrial electron transport chain]]. This complex is crucial for the process of [[oxidative phosphorylation]], which is the primary method of [[ATP]] production in [[aerobic respiration]]. == Function == The COX5A gene product is involved in the final step of the electron transport chain, where it facilitates the transfer of electrons from cytochrome c to oxygen, the terminal electron acceptor. This process contributes to the generation of a proton gradient across the mitochondrial inner membrane, which is used by [[ATP synthase]] to produce ATP. == Clinical Significance == Mutations in the COX5A gene can lead to deficiencies in cytochrome c oxidase activity, which may result in a range of [[mitochondrial disorders]]. These disorders can affect multiple systems in the body, leading to symptoms such as [[muscle weakness]], [[neurological deficits]], and [[metabolic dysfunction]]. == Research == Studies on COX5A have focused on its role in mitochondrial function and its potential involvement in various diseases, including [[neurodegenerative diseases]] and [[cancer]]. Research is ongoing to better understand the regulation of COX5A expression and its impact on cellular metabolism. == See Also == * [[Mitochondrial DNA]] * [[Electron transport chain]] * [[Oxidative phosphorylation]] == References == <references/> == External Links == * [https://www.ncbi.nlm.nih.gov/gene/9377 COX5A Gene - NCBI] * [https://www.uniprot.org/uniprot/P20674 COX5A Protein - UniProt] [[Category:Genes on human chromosome 15]] [[Category:Mitochondrial proteins]] [[Category:Electron transport chain]]
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