Recombinant Human FMR1 Protein, GST-tagged
Cat.No. : | FMR1-4396H |
Product Overview : | Human FMR1 full-length ORF ( AAH38998.1, 1 a.a. - 297 a.a.) recombinant protein with GST-tag at N-terminal. |
- Specification
- Gene Information
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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 |
Source : | Wheat Germ |
Species : | Human |
Tag : | GST |
Molecular Mass : | 58.41 kDa |
AA Sequence : | MEELVVEVRGSNGAFYKAFVKDVHE DSITVAFENNWQPDRQIPFHDVRFP PPVGYNKDINESDEVEVYSRANEKE PCCWWLAKVRMIKGEFYVIEYAACD ATYNEIVTIERLRSVNPNKPATKDT FHKIKLDVPEDLRQMCAKEAAHKDF KKAVGAFSVTYDPENYQLVILSINE VTSKRAHMLIDMHFRSLRTKLSLIM RNEEASKQLESSRQLASRFHEQFIV REDLMGLAIGTHGANIQQARKVPGV TAIDLDEDTCTFHIYGEDQDAVKKA RSFLEFAEDVIQVPRNLVGLKI |
Applications : | Enzyme-linked Immunoabsorbent Assay Western Blot (Recombinant protein) Antibody Production Protein Array |
Notes : | Best use within three months from the date of receipt of this protein. |
Storage : | Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
Gene Name : | FMR1 fragile X mental retardation 1 [ Homo sapiens ] |
Official Symbol : | FMR1 |
Synonyms : | FMR1; fragile X mental retardation 1; POF, POF1, premature ovarian failure 1; fragile X mental retardation protein 1; FMRP; FRAXA; MGC87458; protein FMR-1; fragile X mental retardation 1 protein; POF; POF1; |
Gene ID : | 2332 |
mRNA Refseq : | NM_001185075 |
Protein Refseq : | NP_001172004 |
MIM : | 309550 |
UniProt ID : | Q06787 |
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◆ Lysates | ||
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Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (7)
Ask a questionMutations in FMR1 can impact emotional and behavioral regulation, contributing to mood and behavioral disorders.
FMR1 plays a critical role in cognitive development, influencing how the brain processes and stores information.
FMR1 deficiency causes Fragile X syndrome, leading to intellectual disability and developmental delays.
FMR1 is associated with autism spectrum disorders, affecting brain development and social-communication skills.
FMR1 is key in regulating synaptic function and plasticity, essential for learning and memory.
Changes in FMR1 can affect reproductive health, particularly in carriers of Fragile X mutations, impacting fertility and genetic risks.
FMR1 modulates gene expression and protein synthesis in neurons, crucial for normal brain function.
Customer Reviews (3)
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