MECP2 (GeneName), Methyl-CpG-binding protein 2 (ProteinName), MECP2_HUMAN.
Human MECP2/ Methyl-CpG-binding protein 2 ELISA Kit
Natural and recombinant human Methyl-CpG-binding protein 2
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
Interacts with FNBP3 (By similarity). Interacts with CDKL5 (PubMed:15917271). Interacts with ATRX; MECP2 recruits ATRX to pericentric heterochromatin in neuronal cells (By similarity). Interacts with NCOR2.
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).
Nucleus Colocalized with methyl-CpG in the genome.
MVAGMLGLRE | EKSEDQDLQG | LKDKPLKFKK | VKKDKKEEKE | GKHEPVQPSA |
HHSAEPAEAG | KAETSEGSGS | APAVPEASAS | PKQRRSIIRD | RGPMYDDPTL |
PEGWTRKLKQ | RKSGRSAGKY | DVYLINPQGK | AFRSKVELIA | YFEKVGDTSL |
DPNDFDFTVT | GRGSPSRREQ | KPPKKPKSPK | APGTGRGRGR | PKGSGTTRPK |
AATSEGVQVK | RVLEKSPGKL | LVKMPFQTSP | GGKAEGGGAT | TSTQVMVIKR |
PGRKRKAEAD | PQAIPKKRGR | KPGSVVAAAA | AEAKKKAVKE | SSIRSVQETV |
LPIKKRKTRE | TVSIEVKEVV | KPLLVSTLGE | KSGKGLKTCK | SPGRKSKESS |
PKGRSSSASS | PPKKEHHHHH | HHSESPKAPV | PLLPPLPPPP | PEPESSEDPT |
SPPEPQDLSS | SVCKEEKMPR | GGSLESDGCP | KEPAKTQPAV | ATAATAAEKY |
KHRGEGERKD | IVSSSMPRPN | REEPVDSRTP | VTERVS
This product has not yet been referenced specifically in any publications.
"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2."
"[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]."
"High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation."
"[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]."
"Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus."
"Spectrum of MECP2 mutations in New Zealand Rett syndrome patients."
"MECP2 mutations in Malaysian Rett syndrome patients."
"Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy."
"Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism."
"Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome."
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