Immunogen
Purified recombinant fragment of human FMR1 expressed in E. Coli.
Specificity
FMR1 Monoclonal Antibody detects endogenous levels of FMR1 protein.
Formulation
Ascitic fluid containing 0.03% sodium azide,0.5% BSA, 50%glycerol.
Dilution rate
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 (Immunogen)
Affinity purification
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
Protein name
Fragile X mental retardation 1 protein
Other name
FMR1; Fragile X mental retardation protein 1; FMRP; Protein FMR-1
Human protein sequence Database
Q06787
Mouse protein sequence database
P35922
Rat protein sequence database
Cellular localization
Nucleus . Nucleus, nucleolus . Chromosome, centromere . Chromosome . Cytoplasm . Cytoplasm, perinuclear region . Cytoplasm, Cytoplasmic ribonucleoprotein granule . Perikaryon . Cell projection, neuron projection . Cell projection, axon . Cell projection, dendrite . Cell projection, dendritic spine . Cell junction, synapse, synaptosome . Cell projection, growth cone . Cell projection, filopodium tip . Cell junction, synapse . Cell junction, synapse, postsynaptic cell membrane . Cell junction, synapse, presynaptic cell membrane . Cell membrane . Cytoplasm, Stress granule . Colocalizes with H2AX/H2A.x in pericentromeric heterochromatin in response to DNA damaging agents (By similarity). Localizes on meiotic pachytene-stage chromosomes (By similarity). Forms nuclear foci representing sites of
Tissue expression
Expressed in the brain, cerebellum and testis (PubMed:8401578). Also expressed in epithelial tissues (PubMed:8401578). Expressed in mature oligodendrocytes (OLGs) (PubMed:23891804). Expressed in fibroblast (PubMed:24204304). Expressed in neurons, Purkinje cells and spermatogonias (at protein level) (PubMed:8401578). Expressed in brain, testis and placenta (PubMed:8504300). Expressed in neurons and lymphocytes (PubMed:8504300).
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