COX5A: Difference between revisions

COX5A
Symbol	COX5A
HGNC ID	2265
Alternative symbols	–
Entrez Gene	9377
OMIM	123864
RefSeq	NM_004255
UniProt	P20674
Chromosome	15q24.1
Locus supplementary data	–

Latest revision as of 17:30, 30 December 2024

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[edit]

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[edit]

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[edit]

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.

References[edit]

External Links[edit]

@@ Line 1: / Line 1: @@
-'''COX5A''' is a gene that encodes a subunit of the cytochrome c oxidase (COX) complex, also known as Complex IV, which is the final enzyme in the mitochondrial electron transport chain. This gene is located on chromosome 15 and is expressed in all tissues, with the highest levels found in the heart and skeletal muscle.
+{{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 encodes the COX Va subunit of the COX complex. This subunit is one of the three subunits that form the catalytic core of the complex. The COX complex is responsible for the transfer of electrons from cytochrome c to oxygen, which results in the formation of water. This process is crucial for the generation of ATP, the main source of energy in cells.
+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 ==
+== Clinical Significance ==
-Mutations in the [[COX5A]] gene have been associated with a variety of diseases, including [[Leigh syndrome]], a severe neurological disorder that typically arises in the first year of life and is characterized by progressive loss of mental and movement abilities. Other diseases associated with mutations in this gene include [[cardiomyopathy]], a disease of the heart muscle that can lead to heart failure, and [[mitochondrial complex IV deficiency]], a disorder that can affect multiple systems in the body.
+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 ==
-Research into the [[COX5A]] gene and its associated proteins is ongoing. Understanding the function and structure of this gene and its protein product may lead to new treatments for diseases associated with mitochondrial dysfunction.
+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.
-[[File:COX5A gene location on human chromosome 15.png|thumb|right|300px|Location of the COX5A gene on human chromosome 15.]]
+== See Also ==
+* [[Mitochondrial DNA]]
+* [[Electron transport chain]]
+* [[Oxidative phosphorylation]]
-== See also ==
+== References ==
-* [[Cytochrome c oxidase]]
+<references/>
-* [[Mitochondrial diseases]]
-* [[Leigh syndrome]]
-* [[Cardiomyopathy]]
-== References ==
+== External Links ==
-<references />
+* [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 genes]]
+[[Category:Mitochondrial proteins]]
-[[Category:Human proteins]]
+[[Category:Electron transport chain]]
-{{medicine-stub}}