Cox6B1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
{{Infobox gene
| symbol = COX6B1
| name = Cytochrome C Oxidase Subunit 6B1
| chromosome = 6
| locus = 6p21.1
| geneID = 1005
| omim = 124089
| ensembl = ENSG00000126267
| uniprot = P12074
| uniprot_name = COX6B1
| diseases = Leigh Syndrome, Cardiomyopathy, Sensorineural Hearing Loss
| diseases_ref = Massa et al., 2008, Hum Mol Genet
}}
Cytochrome c oxidase subunit 6B1 (COX6B1) is a nuclear-encoded mitochondrial protein that is a subunit of cytochrome c oxidase (complex IV). The COX6B1 gene is located on chromosome 19q13.12 and encodes a protein of 86 amino acids. COX6B1 is expressed in tissues with high oxidative metabolism and is essential for complex IV assembly and function. In neurons, COX6B1 supports aerobic respiration and is particularly important in regions with high metabolic demand. Mutations in COX6B1 cause mitochondrial complex IV deficiency, leading to Leigh syndrome, cardiomyopathy, and sensorineural hearing loss. The subunit plays a structural role in stabilizing the COX complex and regulating its activity.
Cytochrome c oxidase subunit 6B1 (COX6B1) is a subunit of mitochondrial complex IV (cytochrome c oxidase). COX6B1 is a small hydrophobic protein that plays a structural role in the assembly and function of the enzyme complex.
COX6B1 is essential for:
COX6B1 contributes to Complex IV function:
COX6B1 is expressed in:
COX6B1 mutations cause Leigh syndrome:
COX6B1 deficiency causes:
COX6B1 variants cause hearing loss:
COX6B1 expression:
The study of Cox6B1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Zhang X et al.. "Bisphenol S impairs mitochondrial function by targeting Myo19/oxidative phosphorylation pathway contributing to axonal and dendritic injury." Environment international (2024) DOI:10.1016/j.envint.2024.108643
Yang S et al.. "Overexpression of COX6B1 protects against I/R‑induced neuronal injury in rat hippocampal neurons." Molecular medicine reports (2019) DOI:10.3892/mmr.2019.10144
Wang T et al.. "Association of cytochrome c oxidase dysfunction with amyloidosis in Alzheimer's disease and patient-derived cerebral organoids." bioRxiv : the preprint server for biology (2025) DOI:10.1101/2025.10.01.679889
Zhang, Wang, Wan, Zhang, Pei. COX6B1 relieves hypoxia/reoxygenation injury of neonatal rat cardiomyocytes by regulating mitochondrial function.. **. 2019.
Yang, Wu, Xiao, Jiang. Overexpression of COX6B1 protects against I/R‑induced neuronal injury in rat hippocampal neurons.. **. 2019.
Chen, Chen, Liu, Zhao, Zuo. [miR-30b-3p Inhibits the Proliferation and Invasion of Lung Adenocarcinoma by Targeting COX6B1].. **. 2022.
Jennions, Olsson-Engman, Visuttijai, Wiksell, Fluriach Dominguez. A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.. **. 2024.
Čunátová, Vrbacký, Knězů, Pecinová, Alán. The cytochrome c oxidase subunit COX6B1 is required for redox-sensitive early assembly and late stabilization of complex IV.. **. 2026.
Kim, Mori, Komatsu, Chiba, Hayashi. Upregulation of cytochrome c oxidase subunit 6b1 (Cox6b1) and formation of mitochondrial supercomplexes: implication of Cox6b1 in the effect of calorie restriction.. **. 2015.
Abdulhag, Soiferman, Schueler-Furman, Miller, Shaag. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.. **. 2015.
Sun, Liu, Li, Li, Zhang. Revealing Causal Protein Biomarkers and Potential Therapeutic Targets for Histologic-Specific Lung Cancer.. **. 2025.