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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.
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 ...
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]
100126270 n/a Ensembl ENSG00000268066 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr X: 147.91 – 147.91 Mb n/a PubMed search n/a Wikidata View/Edit Human 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 ...
The second mechanism is through mutations that affect the expression of G-quadruplex binding proteins, as seen in the fragile X mental retardation gene 1 (FMR1) gene and Fragile X Syndrome. [94] The C9orf72 gene codes for the protein C9orf72 which is found throughout the brain in neuronal cytoplasm and at presynaptic terminals. [95]
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 ...
The 3′-untranslated region plays a crucial role in gene expression by influencing the localization, stability, export, and translation efficiency of an mRNA. It contains various sequences that are involved in gene expression, including microRNA response elements (MREs), AU-rich elements (AREs), and the poly(A) tail.
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 ...