Ask about this productRelated genes to: COX18 Blocking Peptide
- Gene:
- COX18 NIH gene
- Name:
- cytochrome c oxidase assembly factor COX18
- Previous symbol:
- -
- Synonyms:
- FLJ38991
- Chromosome:
- 4q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2006-05-15
- Date modifiied:
- 2018-06-21
Related products to: COX18 Blocking Peptide
Related articles to: COX18 Blocking Peptide
- Defects in mitochondrial dynamics are a common cause of Charcot-Marie-Tooth disease (CMT), whereas primary deficiencies in the mitochondrial respiratory chain (MRC) are rare and atypical for this aetiology. This study aims to report COX18 as a novel CMT-causing gene. This gene encodes an assembly factor of mitochondrial Complex IV that translocates the C-terminal tail of MTCO2 across the mitochondrial inner membrane. Exome sequencing was performed in four affected individuals from three families. The patients and available family members underwent thorough neurological and electrophysiological assessment. The impact of one of the identified variants on splicing, protein levels and mitochondrial bioenergetics was investigated in patient-derived lymphoblasts. The functionality of the mutant protein was assessed using a proteinase K protection assay and immunoblotting. Neuronal relevance of COX18 was assessed in a Drosophila melanogaster knockdown model. Exome sequencing coupled with homozygosity mapping revealed a homozygous splice variant c.435-6A>G in COX18 in two siblings with early-onset progressive axonal sensorimotor peripheral neuropathy. By querying external databases, we identified two additional families with rare deleterious biallelic variants in COX18. All eight affected individuals presented with axonal CMT, and some patients also exhibited CNS symptoms, such as dystonia and spasticity. Functional characterization of the c.435-6A>G variant demonstrated that it leads to the expression of an alternative transcript that lacks exon 2, resulting in a stable but defective COX18 isoform. The mutant protein impairs Complex IV assembly and activity, leading to a reduction in mitochondrial membrane potential. Downregulation of the COX18 homologue in D. melanogaster resulted in signs of neurodegeneration, including locomotor deficit and progressive axonal degeneration of sensory neurons. Our study presents genetic and functional evidence that supports COX18 as a newly identified gene candidate for autosomal recessive axonal CMT with or without CNS involvement. These findings emphasize the significance of peripheral neuropathy within the spectrum of primary mitochondrial disorders, in addition to the role of mitochondrial Complex IV in the development of CMT. Our research has important implications for the diagnostic work-up of CMT patients. - Source: PubMed
Armirola-Ricaurte CamilaMorant LauraAdant IsabelleHamed Sherifa APipis MenelaosEfthymiou StephanieAmor-Barris SilviaAtkinson DerekVan de Vondel LiedeweiTomic AleksandraSeneca Sarade Vriendt ElsZuchner StephanGhesquiere BartHanna Michael GHoulden HenryLunn Michael PReilly Mary MMilic Rasic VedranaJordanova Albena - - Source: PubMed
Publication date: 2025/08/01
Goswami DevyaniGhosh SayakDutta RittickGhatak DebapriyaRanjit DebapriyaDe Rudranil - Genetic variability in livestock driven by selection leaves distinct signatures within the genome. However, the comprehensive landscape of the selection responses for milk production traits in the Chinese buffalo population remains elusive. This study employed an integrated haplotype score (iHS) and runs of homozygosity (ROH) analyses of whole-genome sequence data from 100 Chinese buffaloes to decipher selection signatures. Using iHS and ROH, we identified 1 046 and 1 045 significant genomic regions, containing 717 and 263 candidate genes, respectively. The integration of iHS and ROH revealed 258 candidate regions and 108 overlapping genes, representing true selection signatures. Additionally, 94 candidate regions overlapped with 672 previously reported quantitative trait loci associated with key economically important traits. Annotation of the genomic regions highlighted candidate genes linked to milk production traits, including SNORD42, COX18, ANKRD17, ALB, RASSF6, CXCL8, TMEM232, ARHGAP26, and NR3C1. Transcriptome-wide association analysis supported ANKRD17 and CEP41 as potential candidates for affecting milk traits. This study unveils a comprehensive selection signature profile for the Chinese buffalo population by integrating iHS and ROH methods. The findings have broad implications for improving milk production traits in buffalo populations globally, contributing to more sustainable livestock systems. The identified candidate genes shed light on the selection response for milk production traits, offering crucial insights into optimising the breeding strategies for Chinese buffaloes. - Source: PubMed
Publication date: 2025/01/21
Deng T XMa X YDuan A QLu X RAbdel-Shafy H - Arthritis is a leading cause of economic loss in livestock farming including sheep. This study examined the changes in gene expression, antioxidants, pro-inflammatory cytokines, acute-phase proteins (APPs), hormonal assays and iron profiles linked to sheep arthritis, as well as the diagnostic utility of these markers. Blood samples were obtained from 30 apparently healthy rams and 30 rams with arthritis for gene expression and biochemical analyses. Gene expression intensities were much higher in the arthritis-affected rams than in the healthy ones for the genes , , , , , , , , , and . The , , and genes were expressed at substantially lower levels in arthritis-affected rams. Disparities in the nucleotide sequence variants for the amplified DNA bases linked to arthritis for the studied genes were found in the PCR-DNA sequence verdicts of the affected and healthy rams. Immunological, acute-phase protein (APP), antioxidant, hormonal and iron profiles were estimated in both groups and statistically analyzed. The arthritic group in relation to the healthy one showed a significant ( < 0.05) increase in pro-inflammatory cytokines, APPs, free radicals, immunoglobulins, cortisol, GH, TSH, ferritin, TIBC and UIBC and a significant ( ˂ 0.05) decrease in anti-inflammatory cytokines, antioxidants, complements, insulin, T3, T4, SI, and Tf and Tf sat.% serum levels. The estimated pro-inflammatory cytokines and APPs achieved high values of sensitivity and specificity, positive predictive values (PPVs), negative predictive values (NPVs), a high accuracy rate and a moderate likelihood ratio (LR). The study concluded that ovine arthritis stimulates innate and humeral immunity, resulting in prominent alterations in gene expression, pro-inflammatory cytokines, APP assays and antioxidant profiles, which could be valuable indicators of sheep arthritis. - Source: PubMed
Publication date: 2025/02/03
Darwish AsmaaAteya AhmedAlghamdi Mansour AEl-Sayed Ahmed - is a zoonotic pathogen that causes Q fever and is found worldwide. Ticks serve as the primary reservoir, playing an important role in maintaining the natural cycle of . is transmitted to animals when ticks feed on their blood. However, information on infection in ticks remains limited, despite the widespread prevalence of the infection in humans and animals across China. - Source: PubMed
Publication date: 2024/11/27
Xu Ze-YunWang Fang-NiJian RuiXue JingGuo Ya-ChunGuo Wen-Ping