Product Sheet CP10107
Description
BACKGROUND The FMR1 gene is involved in three different syndromes: the Fragile X syndrome, premature ovarian failure (POF) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age.1 Fragile X syndrome is caused by an expanded CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is a multifunctional protein, and proposed to act as a regulator of mRNA transport and/or translation. FMR1 protein binds RNA and is associated with polysomes. It binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C). It may be involved in mRNA trafficking from the nucleus to the cytoplasm.2 A trinucleotide repeat (CGG) in the 5\' UTR is normally found at 6-53 copies. It was shown that FMR1 plays a role in synaptic maturation and function. POF and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in all patients suggests that these syndromes may represent a gain-of-function effect from the elevated message levels. The level of FMR1 mRNA is in fragile balance and is therefore critical for normal functioning.3
REFERENCES
1. Coffee, B. et al: Nature Genetics 22:98-101, 1999
2. Ashley, C.T. et al: Science 262:563-6, 1993
3. Crawford, D.C. et al: Genet. In Med. 3:359-71, 2001
2. Ashley, C.T. et al: Science 262:563-6, 1993
3. Crawford, D.C. et al: Genet. In Med. 3:359-71, 2001
Products are for research use only. They are not intended for human, animal, or diagnostic applications.
(Click to Enlarge)
Top: Western Blot detection of FMR1 proteins in Jurkat and K562 cell lysates using FMR1 Antibody. Middle: This antibody stains paraffin-embedded human brain tissue in immunohistochemical analysis. Bottom: It also stains NIH3T3 cells in confocal immunofluorescent testing (FMR1 Antibody: Green; actin filament: Red; and DRAQ5 DNA dye: Blue).
Details
Cat.No.: | CP10107 |
Antigen: | Purified recombinant human FMR1 fragments expressed in E. coli. |
Isotype: | Mouse IgG |
Species & predicted species cross- reactivity ( ): | Human, Mouse |
Applications & Suggested starting dilutions:* | WB 1:1000 IP n/d IHC 1:200 ICC 1:200 FACS n/d |
Predicted Molecular Weight of protein: | 71 kDa |
Specificity/Sensitivity: | Detects endogenous FMR1 proteins without cross-reactivity with other related proteins. |
Storage: | Store at -20°C, 4°C for frequent use. Avoid repeated freeze-thaw cycles. |
*Optimal working dilutions must be determined by end user.
Products
| Product | Size | CAT.# | Price | Quantity |
|---|---|---|---|---|
| Mouse FMR1 Antibody: Mouse FMR1 Antibody | Size: 100 ul | CAT.#: CP10107 | Price: $333.00 |