• FMR1 Monoclonal Antibody
1 1

Upingbio

YP-Ab-00976-53UL

FMR1 Monoclonal Antibody

FMR1 Monoclonal Antibody

$0.00 USD
$0.00 USD
Sale Sold out
Shipping calculated at checkout.
Size
  • Reaction species: Human
  • Gene Name: FMR1
  • Protein name: Fragile X mental retardation 1 protein
  • Immunogen: Purified recombinant fragment of human FMR1 expressed in E. Coli.
  • Specificity: FMR1 Monoclonal Antibody detects endogenous levels of FMR1 protein.
  • Composition: Ascitic fluid containing 0.03% sodium azide,0.5% BSA, 50%glycerol.
  • Source: Monoclonal, Mouse
  • Dilution ratio: Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/200 - 1/1000. Immunofluorescence: 1/200 - 1/1000. ELISA: 1/10000. Not yet tested in other applications.
  • Purification process: Affinity purification
  • Storage: -20°C/1 year
  • Other Names: FMR1; Fragile X mental retardation protein 1; FMRP; Protein FMR-1
  • Background: The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010],
  • Function: alternative products:At least 12 different isoforms are produced,disease:Defects in FMR1 are the cause of fragile X syndrome. [MIM:300624]. It 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.,disease: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 d
View full details