Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).
Angelman syndrome
AS
A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.
None
The disease may be caused by variants affecting the gene represented in this entry.
Intellectual developmental disorder, X-linked, syndromic 13
MRXS13
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest intellectual disability associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.
None
The disease is caused by variants affecting the gene represented in this entry.
Rett syndrome
RTT
An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.
None
The disease is caused by variants affecting the gene represented in this entry.
Autism, X-linked 3
AUTSX3
A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.
None
The disease may be caused by variants affecting the gene represented in this entry.
Encephalopathy, neonatal severe, due to MECP2 mutations
ENS-MECP2
A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.
None
The disease is caused by variants affecting the gene represented in this entry. The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.
Intellectual developmental disorder, X-linked, syndromic, Lubs type
MRXSL
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest intellectual disability associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.
None
The disease is caused by variants affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the intellectual disability phenotype.
Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation.
Present in all adult somatic tissues tested.
Methyl-CpG-binding protein 2, MeCp-2 protein, MeCp2, MECP2
Proteins
Epigenetics
52441Da
We found 10 products in 3 categories
ab2828
ab277629
ab195393
ab324009
Anti-MeCP2 antibody [EPR23201-3] - BSA and Azide free (Capture)
ab324010
Anti-MeCP2 antibody [EPR29431-34] - BSA and Azide free (Detector)