Rabbit anti-Human MECP2 Polyclonal Antibody

Uniprot Id

P51608

Target Species

Human

Target Name

MECP2

Target Full Name

Methyl-CpG-binding protein 2

Target 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).

Target Involvement

Angelman syndrome (AS); Mental retardation, X-linked, syndromic, 13 (MRXS13); Rett syndrome (RTT); Autism, X-linked 3 (AUTSX3); Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2); Mental retardation, X-linked, syndromic, Lubs type (MRXSL)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Present in all adult somatic tissues tested.

Target Synonyms

AUTSX 3; AUTSX3; DKFZp686A24160; Mbd 5; Mbd5; MECP 2; MeCP 2 protein; MeCP-2 protein; Mecp2; MECP2_HUMAN; Methyl CpG binding protein 2 (Rett syndrome); Methyl CpG binding protein 2; Methyl-CpG-binding protein 2; MRX 16; MRX 79; MRX16; MRX79; MRXS 13; MRXS13; MRXSL; PPMX; RS; RTS; RTT; WBP 10; WBP10

Target 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 cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms.