中文名稱: FMR1抗原(重組蛋白)
英文名稱: FMR1 Antigen (Recombinant Protein)
別 名: POF; FMRP; POF1; FRAXA
儲 存: 冷凍(-20℃)
相關(guān)類別: 抗原
概 述:
Fusion protein corresponding to a region derived from 1-294 amino acids of human FMR1 |
Full name: |
fragile X mental retardation 1 |
Synonyms: |
POF; FMRP; POF1; FRAXA |
Swissprot: |
Q06787 |
Gene Accession: |
NP_002015 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
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). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. |