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Key Documents

WH0004204M1

Sigma-Aldrich

Monoclonal Anti-MECP2 antibody produced in mouse

clone 4B6, purified immunoglobulin, buffered aqueous solution

Synonyme(s) :

Anti-AUTSX3, Anti-DKFZp686A24160, Anti-MRX16, Anti-MRX79, Anti-PPMX, Anti-RTS, Anti-RTT, Anti-methyl CpG binding protein 2 (Rett syndrome)

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About This Item

Numéro MDL:
MFCD02686372
Code UNSPSC :
12352203
Nomenclature NACRES :
NA.41

Source biologique

mouse

Niveau de qualité

100

Conjugué

unconjugated

Forme d'anticorps

purified immunoglobulin

Type de produit anticorps

primary antibodies

Clone

4B6, monoclonal

Forme

buffered aqueous solution

Espèces réactives

mouse

Technique(s)

immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
indirect ELISA: suitable
western blot: 1-5 μg/mL

Isotype

IgG2aκ

Numéro d'accès GenBank

BC011612

Numéro d'accès UniProt

Q9Z2D6

Conditions d'expédition

dry ice

Température de stockage

−20°C

Modification post-traductionnelle de la cible

unmodified

Informations sur le gène

human ... MECP2(4204)

Description générale

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)

Immunogène

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

Actions biochimiques/physiologiques

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.

Forme physique

Solution in phosphate buffered saline, pH 7.4

Informations légales

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

Clause de non-responsabilité

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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Code de la classe de stockage

10 - Combustible liquids

Point d'éclair (°F)

Not applicable

Point d'éclair (°C)

Not applicable

Équipement de protection individuelle

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)

Certificats d'analyse (COA)

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Consulter la Bibliothèque de documents

Kamal K E Gadalla et al.
Molecular therapy. Methods & clinical development, 5, 180-190 (2017-05-13)
Rett syndrome (RTT), caused by loss-of-function mutations in the
Chanchal Sadhu et al.
Genes, 15(1) (2024-01-23)
Inactivating mutations and the duplication of methyl-CpG binding protein 2 (MeCP2), respectively, mediate Rett syndrome (RTT) and MECP2 duplication syndrome. These disorders underscore the conceptual dose-dependent risk posed by MECP2 gene therapy for mosaic RTT patients. Recently, a miRNA-Responsive Autoregulatory
Zhi Yi et al.
European journal of medical genetics, 59(6-7), 347-353 (2016-05-18)
Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carriers are asymptomatic due to
Carlos Bueno et al.
PloS one, 11(4), e0153262-e0153262 (2016-04-12)
Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single
Maria Chahrour et al.
Science (New York, N.Y.), 320(5880), 1224-1229 (2008-05-31)
Mutations in the gene encoding the transcriptional repressor methyl-CpG binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome. Loss of function as well as increased dosage of the MECP2 gene cause a host of neuropsychiatric disorders. To explore the

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