
MECP2 - Wikipedia
MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions. MECP2 is X-linked and subject to X inactivation.
MECP2 duplication syndrome - Children's Hospital of Philadelphia
What is MECP2 duplication syndrome? MECP2 duplication syndrome is a rare neurodevelopmental condition caused by an extra copy (duplication) of the MECP2 gene. The …
MECP2 gene: MedlinePlus Genetics
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 …
MECP2 Disorders - GeneReviews® - NCBI Bookshelf
2001年10月3日 · The diagnosis of a MECP2 disorder is established by molecular genetic testing in a female proband with suggestive findings and a heterozygous MECP2 pathogenic variant, …
MECP2 Gene - GeneCards | MECP2 Protein | MECP2 Antibody
2024年12月25日 · MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Rett Syndrome and Encephalopathy, Neonatal Severe, Due …
Genomic Insights into MeCP2 Function: A Role for the …
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 …
MeCP2: A Critical Regulator of Chromatin in Neurodevelopment …
Methyl CpG binding protein 2 (MeCP2) was first identified as a nuclear protein with a transcriptional repressor role that recognizes DNA methylation marks. MeCP2 has a well …
MECP2 Duplication Syndrome - Symptoms, Causes, Treatment
2017年3月22日 · Learn about MECP2 Duplication Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find
The role of MeCP2 in CNS development and function - PMC
Rett syndrome is a neurodevelopmental disorder that is a direct consequence of functional mutations in the methyl-CpG-binding protein-2 (MeCP2) gene, which has focused attention on …
MECP2 methyl-CpG binding protein 2 [Homo sapiens (human)]
2025年3月16日 · MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive …