Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ06787
    • SpeciesHuman
    • SequenceATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVI LSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFH
    • Molecular weight37 kDa including tags
    • Amino acids121 to 220

Specifications

Our Abpromise guarantee covers the use of ab114231 in the following tested applications.

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

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • FMR 1
    • Fmr1
    • Fmr1 gene
    • FMR1_HUMAN
    • FMRP
    • Fragile X mental retardation 1
    • Fragile X mental retardation 1 protein
    • Fragile X mental retardation protein
    • Fragile X mental retardation protein 1
    • fragile X mental retardation syndrome-related protein 1
    • fragile X mental retardation, autosomal homolog 1
    • FRAXA
    • fxr1
    • MGC87458
    • POF
    • POF1
    • Protein FMR-1
    • Protein FMR1
    • wu:fb16f11
    • wu:fd18c10
    • zgc:66226
    see all
  • FunctionTranslation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C).
  • Tissue specificityHighest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells.
  • Involvement in diseaseDefects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome is a common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.
    Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]. In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems.
    Defects in FMR1 are the cause of premature ovarian failure syndrome type 1 (POF1) [MIM:311360]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
  • Sequence similaritiesBelongs to the FMR1 family.
    Contains 2 KH domains.
  • Post-translational
    modifications
    Phosphorylated on several serine residues.
  • Cellular localizationCytoplasm. Nucleus > nucleolus.
  • Information by UniProt

Recombinant Human FMRP protein images

  • 12.5% SDS-PAGE showing ab114231 at approximately 36.63kDa stained with Coomassie Blue.

References for Recombinant Human FMRP protein (ab114231)

ab114231 has not yet been referenced specifically in any publications.

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