CDG1

CDG1, also known as Chromodomain Helicase DNA Binding Protein 1, is a gene located on chromosome 19q13.2. It encodes a protein that plays a crucial role in DNA repair and transcription regulation. The CDG1 protein is a member of the SWI/SNF chromatin remodeling complex, which is involved in the remodeling of nucleosomes, the basic units of chromatin structure.

Mutations in the CDG1 gene have been associated with Cornelia de Lange syndrome (CdLS), a rare genetic disorder characterized by intellectual disability, growth retardation, and a distinctive facial appearance. CdLS is caused by mutations in multiple genes, including CDG1, and is thought to result from disruptions in chromatin structure and function.

The CDG1 protein has also been implicated in other biological processes, such as DNA replication and cell cycle regulation. Its role in these processes is thought to be mediated through its interaction with other proteins and its ability to alter chromatin structure.

Research on the CDG1 gene and protein is ongoing, with the goal of better understanding their roles in health and disease. This knowledge may lead to the development of new therapies for conditions associated with CDG1 mutations, such as CdLS.