The CBX5 gene is located on chromosome 12 (12q13.13) in humans . The gene encodes a protein that is 191 amino acids in length and contains six exons . The protein has two main domains:
CBX5 is enriched in heterochromatin and is associated with centromeres . It plays a significant role in the formation of functional kinetochores through its interaction with essential kinetochore proteins . The protein is involved in several key biological processes:
Mutations or dysregulation of the CBX5 gene have been associated with various diseases, including Fanconi Anemia and Reynolds Syndrome . The protein’s role in maintaining chromatin structure and gene expression makes it a potential target for therapeutic interventions in diseases related to chromatin dysfunction.
Recombinant CBX5 (Human) is produced using recombinant DNA technology, which allows for the expression of the human CBX5 gene in a host organism, such as bacteria or yeast. This recombinant protein is used in research to study the function and interactions of CBX5 in various biological processes.