COX5A

COX5A

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

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

External Links

• COX5A Gene - NCBI
• COX5A Protein - UniProt