Monoclonal Anti-MECP2 antibody produced in mouse

产品说明

一般描述

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)

免疫原

MECP2 (AAH11612, 81 a.a. ~ 170 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
PKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRREQ

生化/生理作用

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.

外形

Solution in phosphate buffered saline, pH 7.4

法律信息

GenBank is a registered trademark of United States Department of Health and Human Services

免责声明

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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