MECP2 HUMAN

General description

Human recombinant Methyl CpG binding Protein 2 (Rett syndrome) (MECP2), (GenBank Accession No. NM_004992), amino acids 78-162 with N-terminal GST-tag, MW= 36 kDa, expressed in an E. coli expression system.

Methyl-CpG binding protein 2 (MECP2) is encoded by the gene mapped to human chromosome Xq28. Higher molecular weight form of hMeCP2 is expressed in frontal cortex nuclear and synaptic fractions, and in lymphoid cells. Fibroblast and lymphoblastoid strains of female patients with Rett syndrome and MeCP2 transfected cells also show expression of high molecular weight form of MeCP2.2The encoded chromosomal protein is characterized with the 80 amino acid-containing methyl-CpG binding domain, involved in chromosomal localization of the protein.

Application

Useful for the study of enzyme kinetics, screening inhibitors, and selectivity profiling.

Biochem/physiol Actions

Methyl-CpG binding protein 2 (MECP2) plays a vital role in regulation of a wide range of genes in the hypothalamus, and aids in both activation and repression of transcription. Mutation of the gene leads to a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections in males. Impairment in the expression of MeCP2 protein results in various neurological disorders such as Rett syndrome and Autism.