Cox8c is a gene associated with the metabolic disorders of the nervous system [1]. It is a testis-enriched cytochrome c oxidase (COX) subunit. COX is an oligomeric complex in the mitochondrial inner membrane and the terminal enzyme of the mitochondrial electron transport chain in eukaryotes, involved in the production of ATP through oxidative phosphorylation [2].

In gene-knockout studies, disrupting Cox8c in mice does not affect male fertility, indicating that this testis-enriched COX subunit is not essential for oxidative phosphorylation in mouse spermatozoa [2]. Additionally, in a genetic screen of somatic cell nuclear transfer-reprogramming resistant genes, Cox8c was found to be exclusively expressed in the testis, but its knockout did not lead to abnormal sperm production compared to other genes in the study [3]. In patients with tethered spinal cord syndrome, chromosomal aberration of Cox8c was detected, suggesting its potential association with the pathogenesis of this disease [1].

In conclusion, Cox8c, as a testis-enriched COX subunit, does not seem to be essential for sperm-related OXPHOS and male fertility based on mouse KO models. Its chromosomal aberration may be related to tethered spinal cord syndrome, providing insights into understanding the gene's function in nervous system-related metabolic disorders and male germ cell development.

References:

1. Zhao, Qiu-Jiong, Bai, Shao-Cong, Cheng, Cheng, Hang, Xing-Yi, Shang, Ai-Jia. . Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis. In Neural regeneration research, 11, 1333-8. doi:10.4103/1673-5374.189200. https://pubmed.ncbi.nlm.nih.gov/27651783/

2. Shimada, Keisuke, Lu, Yonggang, Ikawa, Masahito. 2023. Disruption of testis-enriched cytochrome c oxidase subunit COX6B2 but not COX8C leads to subfertility. In Experimental animals, 73, 1-10. doi:10.1538/expanim.23-0055. https://pubmed.ncbi.nlm.nih.gov/37423748/

3. Akter, Most Sumona, Hada, Masashi, Shikata, Daiki, Ogura, Atsuo, Matoba, Shogo. 2021. Nuclease technology-based genetic screen of SCNT-reprogramming resistant genes identifies critical genes for male germ cell development in mice. In Scientific reports, 11, 15438. doi:10.1038/s41598-021-94851-9. https://pubmed.ncbi.nlm.nih.gov/34326397/