antibody

Anti-Phospho-Ser80 MECP2

MBS502151

0.1 mL

300 USD

polyclonal

rabbit

nonconjugated

human, mouse, rat

western blot, immunohistochemistry

Antibody

Anti-Phospho-Ser80 MECP2

MeCP2 (Ser80)

methyl-CpG-binding protein 2 isoform 2; Methyl-CpG-binding protein 2; methyl-CpG-binding protein 2; meCp-2 protein; methyl CpG binding protein 2 (Rett syndrome)

MECP2

MECP2; MECP2; RS; RTS; RTT; PPMX; MRX16; MRX79; MRXSL; AUTSX3; MRXS13; MeCp-2 protein; MeCp2

MECP2_HUMAN

Polyclonal

Rabbit

Human, mouse, rat

498

Specific for the ~75 kDa MECP2 protein phosphorylated at Ser80 in Western blots of human, rat and mouse brain extracts. The antibody has also been used successfully for immunohistochemistry on mouse brain sections.

Serum

100 ul in 10 mM HEPES (pH 7.5), 150 mM NaCl, 100 ug per ml BSA and 50% glycerol. Adequate amount of material to conduct 10-mini Western Blots

Store at -20 degree C in undiluted aliquots; stable for at least 1 year after date of receipt. Avoid freeze/thaw cycles.

Western Blot (WB), Immunohistochemistry (IHC)

Quality Control: Western blots performed on each lot. WB: 1:1,000. IHC 1:100

Antigen: Phosphopeptide corresponding to amino acid residues surrounding the phospho-Ser80 of MECP2 (Methyl-CpG Binding Protein 2) protein. Immunogen Information: Synthetic phospho-peptide corresponding to amino acid residues surrounding Ser80 conjugated to KLH. Immunogen Species: Human

Species Reactivity Note: The antibody has been directly tested for reactivity in human, mouse and rat. It has not been tested for reactivity with other species. Biological Significance: MECP2 (Methyl-CpG Binding Protein 2) is a chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair and is not influenced by sequences flanking the methyl-CpGs. MECP2 has been shown to mediate transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Defects in MECP2 are the cause of Rett syndrome (RTT). RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Recent studies have reported a new phosphorylation site at Ser80. Phosphorylation and dephosphorylation of this site may be involved in modulating the dynamic function of MECP2 in neurons transiting between resting and active states within neural circuits that underlie behaviors. (Tao et al., 2009)

Rabbit polyclonal antibody

Tao J, Hu K, Chang Q, Wu H, Sherman NE, Martinowich K, Klose RJ, Schanen C, Jaenisch R, Wang W, Sun YE (2009) Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function. Proc Natl Acad Sci U S A.106(12):4882-7.

160707950

NP_001104262.1

NM_001110792.1

P51608

75

SIDS Susceptibility Pathways (198901)

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. [provided by RefSeq, Jul 2009]

Function: 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) . By similarity. Subunit structure: Interacts with FNBP3 . By similarity. Interacts with CDKL5. Ref.14. Subcellular location: Nucleus. Note: Colocalized with methyl-CpG in the genome. Tissue specificity: Present in all adult somatic tissues tested. Post-translational modification: Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation . By similarity. Involvement in disease: Angelman syndrome (AS) [MIM:105830]: 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.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.36 Ref.40Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]: 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 mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.26 Ref.28 Ref.38 Ref.44 Ref.48 Ref.49 Ref.50 Ref.54 Ref.58Rett syndrome (RTT) [MIM:312750]: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation 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, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.24 Ref.25 Ref.27 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.39 Ref.40 Ref.42 Ref.43 Ref.49 Ref.51 Ref.52 Ref.53 Ref.56Autism, X-linked 3 (AUTSX3) [MIM:300496]: 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 mental retardation.Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.55Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.Note: The disease is caused by mutations 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. Ref.41Mental retardation, X-linked, syndromic, Lubs type (MRXSL) [MIM:300260]: 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 mental retardation 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype. Ref.57. Sequence similarities: Contains 2 A.T hook DNA-binding domains.Contains 1 MBD (methyl-CpG-binding) domain. Sequence caution: The sequence CAD97991.1 differs from that shown. Reason: Erroneous initiation.

0.1 mL

300 USD