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Key Documents

WH0002332M1

Sigma-Aldrich

Monoclonal Anti-FMR1 antibody produced in mouse

clone 2D4, purified immunoglobulin, buffered aqueous solution

Synonym(e):

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

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About This Item

MDL-Nummer:
MFCD07370939
UNSPSC-Code:
12352203
NACRES:
NA.41

Biologische Quelle

mouse

Konjugat

unconjugated

Antikörperform

purified immunoglobulin

Antikörper-Produkttyp

primary antibodies

Klon

2D4, monoclonal

Form

buffered aqueous solution

Speziesreaktivität

human

Methode(n)

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

Isotyp

IgG1κ

GenBank-Hinterlegungsnummer

NM_002024

UniProt-Hinterlegungsnummer

Q06787

Versandbedingung

dry ice

Lagertemp.

−20°C

Posttranslationale Modifikation Target

unmodified

Angaben zum Gen

human ... FMR1(2332)

Allgemeine Beschreibung

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. Wirkung

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.

Physikalische Form

Solution in phosphate buffered saline, pH 7.4

Rechtliche Hinweise

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

Haftungsausschluss

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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Lagerklassenschlüssel

10 - Combustible liquids

Flammpunkt (°F)

Not applicable

Flammpunkt (°C)

Not applicable

Persönliche Schutzausrüstung

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)

Analysenzertifikate (COA)

Suchen Sie nach Analysenzertifikate (COA), indem Sie die Lot-/Chargennummer des Produkts eingeben. Lot- und Chargennummern sind auf dem Produktetikett hinter den Wörtern ‘Lot’ oder ‘Batch’ (Lot oder Charge) zu finden.

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In der Dokumentenbibliothek finden Sie die Dokumentation zu den Produkten, die Sie kürzlich erworben haben.

Die Dokumentenbibliothek aufrufen

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
D Devys et al.
Nature genetics, 4(4), 335-340 (1993-08-01)
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR-1 transcription. FMR-1 is expressed in many tissues but
Jocelyn N Galloway et al.
Human molecular genetics, 23(22), 5906-5915 (2014-07-06)
Determining the molecular mechanism(s) leading to Purkinje neuron loss in the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS) is limited by the complex morphology of this cell type. Purkinje neurons are notoriously difficult to isolate and maintain in culture presenting
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