Oct 3, 2001 · A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet. 2000;67:982–5. [ PMC free article : PMC1287900 ] [ PubMed : 10986043 ]

The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611. MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions.

The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes.

Mar 30, 2025 · MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Rett Syndrome and Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations. Among its related pathways are Transcriptional Regulation by MECP2 and Gene expression (Transcription).

What is MECP2 duplication syndrome? MECP2 duplication syndrome is a rare neurodevelopmental condition caused by an extra copy (duplication) of the MECP2 gene. The disorder can cause a wide range of symptoms with varying severity.

Genetic mutations in the coding region of the X-chromosome-linked MECP2 gene alter the ability with which its encoded protein MeCP2 binds to DNA within the context of chromatin.

Mar 26, 2025 · MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple …

In this review, we describe several recent developments, highlight future challenges, and articulate a model by which MeCP2 functions as an organizer of chromatin architecture to modulate global gene expression in the nervous system.

MECP2, a relatively small gene located in the human X chromosome, was initially described with three exons transcribing RNA from which the protein MeCP2 was translated. It is now known to have four exons from which two isoforms are translated; ...

Feb 8, 2025 · MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple …