Search results
Results from the WOW.Com Content Network
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.
Location of the FMR1 gene on the X chromosome. Fragile X syndrome is a genetic disorder which occurs as a result of a mutation of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome, most commonly an increase in the number of CGG trinucleotide repeats in the 5' untranslated region of FMR1.
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]
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 ...
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]
Three categories of trinucleotide repeat disorders and related microsatellite (4, 5, or 6 repeats) disorders are described by Boivin and Charlet-Berguerand. [2] The first main category these authors discuss is repeat expansions located within the promoter region of a gene or located close to, but upstream of, a promoter region of a gene.
Several cell function specific transcription factor proteins (in 2018 Lambert et al. indicated there were about 1,600 transcription factors in a human cell [8]) generally bind to specific motifs on an enhancer [9] and a small combination of these enhancer-bound transcription factors, when brought close to a promoter by a DNA loop, govern the ...