CBX2
Description
The CBX2 gene, also known as Chromobox 2, encodes a protein that plays a crucial role in gene regulation and chromatin structure. It is a member of the Polycomb group (PcG) proteins, which are known for their involvement in silencing genes during development. CBX2 binds to specific DNA sequences and interacts with other PcG proteins to form complexes that modify histones, the proteins that package DNA. These modifications influence gene expression by making DNA more or less accessible to transcription factors. CBX2 is involved in various developmental processes, including cell differentiation, organogenesis, and stem cell maintenance. Its dysregulation has been implicated in a range of diseases, including cancer and developmental disorders.
Associated Diseases
- Cancer (e.g., leukemia, breast cancer, prostate cancer)
- Developmental disorders (e.g., intellectual disability, autism spectrum disorder)
- Neurological disorders (e.g., epilepsy, Alzheimer‘s disease)
Did you know?
CBX2 gene mutations are associated with a rare genetic disorder called "Kabuki syndrome," which is characterized by distinctive facial features, intellectual disability, and developmental delays.
