Recombinant人MeCP2 protein (ab125491)

概述

描述

  • 性质Recombinant
  • 来源HEK 293 cells
  • 氨基酸序列
    • AccessionP51608
    • 种属Human
    • 序列MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSA HHSAEPAEAGKAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTL PEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSL DPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPK AATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKR PGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETV LPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESS PKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPT SPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKY KHRGEGERKDIVSSSMPRPNREEPVDSRTPVTERVS
    • 分子量52 kDa
    • 氨基酸1 to 486
    • 标签DDDDK tag N-Terminus

技术指标

Our Abpromise guarantee covers the use of ab125491 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    SDS-PAGE

  • 纯度> 90 % SDS-PAGE.

  • 形式Liquid
  • 补充说明For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Please prevent freeze-thaw cycles.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Store at -20°C. Store under Desiccating conditions.

    pH: 7.50
    Constituents: 0.61% Tris, 10% Glycerol, 1.75% Sodium chloride

常规信息

  • 别名
    • AUTSX 3
    • AUTSX3
    • DKFZp686A24160
    • Mbd 5
    • Mbd5
    • MECP 2
    • MeCP 2 protein
    • MeCP-2 protein
    • Mecp2
    • MECP2_HUMAN
    • Methyl CpG binding protein 2
    • Methyl CpG binding protein 2 (Rett syndrome)
    • Methyl-CpG-binding protein 2
    • MRX 16
    • MRX 79
    • MRX16
    • MRX79
    • MRXS 13
    • MRXS13
    • MRXSL
    • PPMX
    • RS
    • RTS
    • RTT
    • WBP 10
    • WBP10
    see all
  • 功能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.
  • 组织特异性Present in all adult somatic tissues tested.
  • 疾病相关Defects in MECP2 may be a cause of Angelman syndrome (AS) [MIM:105830]; also known as happy puppet syndrome. AS is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett syndrome have overlapping clinical features.
    Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.
    Defects in MECP2 are the cause of Rett syndrome (RTT) [MIM:312750]. RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.
    Defects in MECP2 may be the cause of susceptibility autism X-linked type 3 (AUTSX3) [MIM:300496]. AUTSX3 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age.
    Defects in MECP2 are the cause of encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2) [MIM:300673]. Note=The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.
    Defects in MECP2 are the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:300260]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. Note=Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.
  • 序列相似性Contains 2 A.T hook DNA-binding domains.
    Contains 1 MBD (methyl-CpG-binding) domain.
  • 翻译后修饰Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation.
  • 细胞定位Nucleus. Colocalized with methyl-CpG in the genome.
  • Information by UniProt

Recombinant Human MeCP2 protein (ab125491)参考文献

ab125491 has not yet been referenced specifically in any publications.

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