Product Overview
Blocking/Immunizing peptide for anti-FMR1 antibody
Tag/Conjugate
Unconjugated
Application Notes
For in vitro research use only. Not intended for any diagnostic or therapeutic purpose. Not for human or animal consumption.
Format
Lyophilized powder
Storage
Shipped at ambient temperature, store at -20°C.
Antigen 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). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
Function
RNA binding; mRNA binding; poly(A) RNA binding; protein binding;
Synonyms
FMR1; fragile X mental retardation 1; POF; FMRP; POF1; FRAXA; fragile X mental retardation protein 1;
Citations
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Crawford, DC; Acuna, JM; et al. FMR1 and the fragile X syndrome: Human genome epidemiology review. GENETICS IN MEDICINE 3:359-371(2001).
Loesch, DZ; Huggins, RM; et al. Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS 107:136-142(2002).