推荐产品
生物源
mouse
品質等級
共軛
unconjugated
抗體表格
purified immunoglobulin
抗體產品種類
primary antibodies
無性繁殖
2D4, monoclonal
形狀
buffered aqueous solution
物種活性
human
技術
indirect ELISA: suitable
western blot: 1-5 μg/mL
同型
IgG1κ
GenBank登錄號
UniProt登錄號
運輸包裝
dry ice
儲存溫度
−20°C
目標翻譯後修改
unmodified
基因資訊
human ... FMR1(2332)
一般說明
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)
免疫原
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
Sequence
ATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFH
生化／生理作用
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.
外觀
Solution in phosphate buffered saline, pH 7.4
法律資訊
GenBank is a registered trademark of United States Department of Health and Human Services
免責聲明
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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儲存類別代碼
10 - Combustible liquids
閃點（°F）
Not applicable
閃點（°C）
Not applicable
個人防護裝備
Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)
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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