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FMR1 intronic transcript 1 (FMR1-IT1)
- Target
- FMR1-IT1
- Molecular classification
- Other (long non-coding RNA, lncRNA)
01
Overview
FMR1 intronic transcript 1 (FMR1-IT1) is a long non-coding RNA gene transcribed from an intronic region of the FMR1 locus on Xq27.3. While the protein-coding FMR1 gene is well known for its role in fragile X syndrome and related disorders, FMR1-IT1 represents a non-coding transcript of largely unknown function. Its presence reflects the transcriptional complexity of the FMR1 locus, where multiple RNA products, including non-coding RNAs, may contribute to gene regulation, chromatin structure, or epigenetic state. There is emerging evidence that the region of FMR1 intron 1, overlapping where FMR1-IT1 is transcribed, may be differentially methylated in disease states and contribute to FMR1 gene silencing[1][3]. The lncRNA itself is not currently a drug target, but the epigenetic status of its genomic region serves as a diagnostic tool in fragile X syndrome research and may have regulatory significance.
- Other names
- FMR1-IT1FMR1 intronic transcript 1lncRNA FMR1-IT1
02
Biological functions
Regulatory RNA, likely involved in chromatin context, transcriptional or epigenetic regulation. Specific function is not well-characterized
03
Disease associations
Fragile X syndrome (by association, due to location within the FMR1 gene)possibly other FMR1-related disorders such as FXTAS, FXPOI
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