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FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene [5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. [6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
In molecular biology, FMR1 antisense RNA 1 (FMR1-AS1), also known as ASFMR1 or FMR4, is a long non-coding RNA. The FMR1-AS1 gene overlaps, and is antisense to, the CGG repeat region of the FMR1 gene. [3] Its expression is upregulated in fragile X syndrome premutation carriers, and silenced in patients with fragile X syndrome.
The protein encoded by this gene is an RNA binding protein that interacts with the functionally similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this ...
FMR1 mRNA is found to be elevated in patients with FXTAS [7] in contrast to FXS, where the FMR1 gene is transcriptionally silenced via DNA methylation. [8] In both diseases the FMR1 gene product, Fragile X mental retardation protein (FMRP) is diminished, but in FXTAS this is believed to be mediated by RNA toxicity , while in FXS, FMRP is absent ...
26747 27275 Ensembl ENSG00000083635 ENSMUSG00000022009 UniProt Q9UHK0 Q9QXX8 RefSeq (mRNA) NM_012345 NM_013745 RefSeq (protein) NP_036477 NP_038773 Location (UCSC) Chr 13: 44.94 – 44.99 Mb Chr 14: 76.35 – 76.37 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Nuclear fragile X mental retardation-interacting protein 1 is a protein that in humans is encoded by the NUFIP1 gene ...
Beadle wrote in 1966, that after reading the 1951 Cold Spring Harbor Symposium on Genes and Mutations, he had the impression that supporters of the one gene–one enzyme hypothesis “could be counted on the fingers of one hand with a couple of fingers left over.” [10] By the early 1950s, most biochemists and geneticists considered DNA the ...
Studies have reported that the intracellular trafficking of fatty acids is a complicated and dynamic process that directly or indirectly influences multiple functions of the cell and especially regulates important biochemical processes in normal cells, [9] including gene expression modulation, cell development, metabolism, and inflammatory ...