MBD5 : methyl-CpG binding domain protein 5

Description

The MBD5 (methyl-CpG binding domain protein 5) is a protein-coding gene located on chromosome 2.

The MBD5 gene belongs to a family of genes called the methyl-CpG-binding domain (MBD) genes. These genes provide instructions for making proteins that help regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The MBD5 protein is likely involved in regulating gene expression and controlling the production of proteins that are involved in neurological functions such as learning, memory, and behavior. The MBD5 protein also seems to play a role in the growth and division (proliferation) and maturation (differentiation) of various types of cells.

Binds to heterochromatin. Does not interact with methylated or unmethylated DNA (in vitro).

MBD5 is also known as C2DELq23.1, DEL2Q23.1, MRD1.

Associated Diseases

• 2q23.1 microdeletion syndrome
• Mental retardation, autosomal dominant 1
• MBD5-associated neurodevelopmental disorder