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Key Specifications Table
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H, M, R | ELISA, ICC, IHC, IH(P), WB | M | Ascites | Monoclonal Antibody |
| Description | |
|---|---|
| Catalogue Number | MAB2160 |
| Brand Family | Chemicon® |
| Trade Name |
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| Description | Anti-Fragile X Mental Retardation Protein Antibody, clone 1C3 |
| Alternate Names |
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| Background Information | Fragile X Mental Retardation Protein (FMRP) is a RNA-binding protein that is associated to polysomes and may be involved in the transport of mRNA from the nucleus to the cytoplasm. Defects in FMR1 are the cause of Fragile X syndrome, which is a common genetic disease characterized by moderate to severe mental retardation, macroorchidism, 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. |
| Product Information | |
|---|---|
| Format | Ascites |
| Control |
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| Presentation | Ascites mouse monoclonal IgG1k fluid containing no preservatives |
| Quality Level | MQ100 |
| Applications | |
|---|---|
| Application | Anti-Fragile X Mental Retardation Protein Antibody, clone 1C3 detects level of Fragile X Mental Retardation Protein & has been published & validated for use in ELISA, IC, IH, IH(P) & WB. |
| Key Applications |
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| Applications Not Recommended |
|
| Application Notes | Immunohistochemistry: Frozen and paraffin sections. 1:500-1:5,000 dilution of a previous lot was used. ELISA: A 1:500-1:5,000 dilution of a previous lot was used in ELISA. Detection of FMRP on Blood Smears: A 1:500-1:5,000 dilution of a previous lot was used. Immunocytochemistry: A 1:500-1:5,000 dilution of a previous lot was used on transfected cells. Light fixation (2% PFA, permeabilize with 0.1% triton in block only) Optimal working dilutions must be determined by the end user. |
| Biological Information | |
|---|---|
| Immunogen | Fusion protein with a full length FMRP (human). |
| Clone | 1C3 |
| Concentration | Please refer to the Certificate of Analysis for the lot-specific concentration. |
| Host | Mouse |
| Specificity | Human and mouse FMRP. The epitope is localized in the N-terminal half of FMRP. Cross reaction with FXR protein may be detected in cases of high expression of the latter proteins. |
| Isotype | IgG1κ |
| Species Reactivity |
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| Antibody Type | Monoclonal Antibody |
| Entrez Gene Number |
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| Entrez Gene Summary | 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. |
| Gene Symbol |
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| Purification Method | Unpurified |
| UniProt Number |
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| UniProt Summary | FUNCTION: SwissProt: Q06787 # RNA-binding protein. Associated with polysomes and might be involved 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). SIZE: 632 amino acids; 71174 Da SUBUNIT: Found in a RNP granule complex with IGF2BP1. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1 and RANBP9. Interacts with CYFIP1 and CYFIP2. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. TISSUE SPECIFICITY: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. DISEASE: SwissProt: Q06787 # 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. & 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. SIMILARITY: SwissProt: Q06787 ## Belongs to the FMR1 family. & Contains 2 KH domains. MISCELLANEOUS: RNA-binding activity is inhibited by RANBP9. & The mechanism of the severe phenotype in the Asn- 304 patient lies in the sequestration of bound mRNAs in nontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via alternate mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome. Asn-304 mutation maps to a position within the second KH domain of FMRP that is critical for stabilizing sequence-specific RNA-protein interactions. Asn-304 mutation abrogates the association of the FMRP KH 2 domain with its target, kissing complex RNA. |
| Molecular Weight | ~71 kDa |
| Product Usage Statements | |
|---|---|
| Quality Assurance | Evaluated by Western Blot on Mouse E17 spinal cord lysates. Western Blotting Analysis: 1:500 dilution of this antibody detected Fragile X Mental Retardation Protein on 10 μg of Mouse E17 spinal cord lysates. |
| Usage Statement |
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| Storage and Shipping Information | |
|---|---|
| Storage Conditions | Stable for 1 year at -20ºC from date of receipt. |
| Packaging Information | |
|---|---|
| Material Size | 100 µL |