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Key Documents

WH0002332M1

Sigma-Aldrich

Monoclonal Anti-FMR1 antibody produced in mouse

clone 2D4, purified immunoglobulin, buffered aqueous solution

Synonym(s):

Anti-FMRP, Anti-FRAXA, Anti-MGC87458, Anti-fragile X mental retardation 1

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About This Item

MDL number:
MFCD07370939
UNSPSC Code:
12352203
NACRES:
NA.41

biological source

mouse

Quality Level

100

conjugate

unconjugated

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

2D4, monoclonal

form

buffered aqueous solution

species reactivity

human

technique(s)

indirect ELISA: suitable
western blot: 1-5 μg/mL

isotype

IgG1κ

GenBank accession no.

NM_002024

UniProt accession no.

Q06787

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... FMR1(2332)

General description

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). (provided by RefSeq)

Immunogen

FMR1 (NP_002015, 121 a.a. ~ 220 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
ATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFH

Biochem/physiol Actions

Fragile X mental retardation 1 (FMR1) plays a vital role in neuronal development and maturation. Deletion or lack of expression of the gene encoding FMRP results in fragile X syndrome. FMRP1 acts as a vital element of messenger ribonucleoprotein complexes present within the translation apparatus, and is involved in the regulation of mRNA translation.

Physical form

Solution in phosphate buffered saline, pH 7.4

Legal Information

GenBank is a registered trademark of United States Department of Health and Human Services

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Storage Class Code

10 - Combustible liquids

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Personal Protective Equipment

dust mask type N95 (US), Eyeshields, Gloves

Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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Alain Y Dury et al.
PLoS genetics, 9(10), e1003890-e1003890 (2013-11-10)
Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP). This RNA-binding protein, widely expressed in mammalian tissues, is particularly abundant in neurons and is a component of messenger
Damien Sanlaville et al.
Orphanet journal of rare diseases, 4, 4-4 (2009-02-24)
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations widely vary depending on the gender of the patient and on the gene content of the duplicated segment. Prevalence
Laetitia Davidovic et al.
Human molecular genetics, 15(9), 1525-1538 (2006-03-31)
The fragile X syndrome, the leading cause of inherited mental retardation, is due to the inactivation of the fragile mental retardation 1 gene (FMR1) and the subsequent absence of its gene product FMRP. This RNA-binding protein is thought to control

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