CHD2 : chromodomain helicase DNA binding protein 2
Description
The CHD2 (chromodomain helicase DNA binding protein 2) is a protein-coding gene located on chromosome 15.
The CHD2 gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Chromodomain DNA helicase protein 2 appears to play an important role in the brain, although its function is not well understood. Research suggests that it may help control development or functioning of nerve cells (neurons).
CHD2 is a DNA-binding helicase that specifically targets gene promoters, triggering chromatin remodeling. This process likely involves facilitating the deposition of histone H3.3. CHD2 plays a role in myogenesis through its interaction with MYOD1. It binds to myogenic gene regulatory sequences and orchestrates the integration of histone H3.3 before myogenic gene expression begins, ultimately promoting their expression.
CHD2 is also known as DEE94, EEOC.
Associated Diseases
- Develomental and epileptic encephalopathy 94
- Myoclonic-astatic epilepsy
- Lennox-Gastaut syndrome
- CHD2 myoclonic encephalopathy
- Autism spectrum disorder
