Molecular weight (DA)
53kD
Immunogen
Synthetic Peptide of MeCP2 AA range: 313-363
Specificity
The antibody detects endogenous MeCP2 proteins.
Formulation
PBS, pH 7.4, containing 0.5%BSA, 0.02% sodium azide as Preservative and 50% Glycerol.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using specific immunogen.
Background
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. 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 neurologic developmental disorder and one of the most common causes of mental retardation in females. Alternative splicing results in multiple transcript variants encoding different isofor
Function
disease:A chromosomal duplication involving MECP2 is the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:300260]. Increased dosage of MECP2 appears to be responsible for the mental retardation phenotype. The main features present in affected males are severe to profound mental retardation with onset at birth, axial and facial hypotonia, progressive spasticity predominantly at the lower limbs, seizures and recurrent infections.,disease:Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic
Protein name
Methyl-CpG-binding protein 2
Other name
Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeCp2)
Human protein sequence Database
P51608
Mouse protein sequence database
Q9Z2D6
Rat protein sequence database
Q00566
Cellular localization
Nucleus . Colocalized with methyl-CpG in the genome. Colocalized with TBL1X to the heterochromatin foci. .
Tissue expression
Present in all adult somatic tissues tested.
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