MECP2

Description

The MECP2 gene plays a crucial role in brain development and function. It encodes a protein called methyl-CpG-binding protein 2 (MeCP2), which acts as a "master regulator" of gene expression by binding to methylated DNA. MeCP2 is essential for proper neuronal development, synaptic plasticity, and learning. Mutations in the MECP2 gene can lead to a range of neurodevelopmental disorders, most notably Rett syndrome, a severe and debilitating condition.

Associated Diseases

• Rett syndrome
• MECP2 duplication syndrome
• Angelman syndrome
• Autism spectrum disorder
• Intellectual disability

Did you know?

The MECP2 gene is located on the X chromosome, making it more common in females.