FMR1

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fragile X syndrome

an X-linked recessive syndrome consisting of mental retardation, a characteristic facies, and macroorchidism. DNA analysis shows abnormal trinucleotide repeats on the X chromosome near the end of its long arm, at Xq27.3. Constriction is demonstrable at this site on karyotyping after culture in folate-deficient medium.
See also: Renpenning syndrome.

FMR1

A gene on chromosome Xq27.3 that encodes a protein which binds RNA, is associated with polysomes and may be involved in mRNA trafficking from the nucleus to the cytoplasm.

Molecular pathology
Expansion of the number of trinucleotide (CGG) repeats more than the usual number (up to 53) is associated with fragile X syndrome and a form of premature ovarian failure.

FMR1

Abbreviation for fragile X syndrome.
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References in periodicals archive ?
Although relegated to relative obscurity for many years, we're likely to start seeing a lot more in the scientific and popular media about the FMR1 gene, its FMRP protein and fragile X syndrome.
FMRP is owned by over 60 rural mutual insurance companies in eight provinces.
Darnell of Rockefeller University in New York and her colleagues exposed FMRP to random strings of the subunits that join to form RNA.
3] Nonstandard abbreviations: TSH, thyroid-stimulating hormone; FSH, follicle-stimulating hormone; PCOS, polycystic ovary syndrome; DHEAS, dehydroepiandrosterone sulfate; POI, primary ovarian insufficiency; FX, fragile X; FMRP, FX mental retardation protein; UTR, untranslated region; FXS, FX syndrome; AMH, antimullerian hormone.
Imagining a time when CGG repeats in an individual could be corrected (pre or postnatally), and the gene-producing FMRP protein "turned back on," may not be in the realm of science fiction.
Thus, the skewness of X inactivation, the methylation state of the FMR1 promoter, and FMRP production are more reflective of FMR1 function and patients' clinical outcomes than CGG size, particularly in females.
By understanding for the first time the direct targets of FMRP and its actions, we open up a whole world of potential avenues for therapies designed to make kids with Fragile X or autism better," said Robert Darnell, a Howard Hughes Medical Institute investigator at The Rockefeller University.
An important protein that is unregulated in the absence of FMRP is matrix metalloproteinase 9 (MMP9), which has a role in synaptic plasticity.
The full mutation to the FMR1 gene causes little or no FMRP to be synthesized by the body.
Fragile X syndrome is caused by low levels of the FMRP protein, which is thought to play a role in communication between nerve cells.
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