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BORCS8-MEF2B readthrough (BORCS8-MEF2B)
- Target
- BORCS8-MEF2B
- Molecular classification
- Other (readthrough transcript, with some protein-coding potential), transcription factor (for the MEF2B-derived protein isoform)
01
Overview
BORCS8-MEF2B readthrough is a hybrid transcript formed from transcriptional continuity between the BORCS8 and MEF2B gene loci. While most of its transcripts are predicted to be non-coding due to nonsense-mediated decay, some can translate into a MEF2B isoform, which can function as a transcription factor involved in muscle gene regulation and possibly nervous system development. Clinical associations are limited, though MEF2B alterations (not explicitly readthrough variants) have been linked to neurodegeneration and certain lymphomas. The readthrough gene itself is not commonly recognized as a druggable therapeutic target or receptor[1][2][3][7][4].
- Other names
- MEF2BNB-MEF2BGC19M019146GC19M019184GC19M092436GC19M096538GC19M100638GC19M104651GC19M108422
02
Biological functions
Transcription regulation (via MEF2B isoform)possible involvement in nervous system development and muscle gene activation
03
Disease associations
Limited—associated loci mention neurodegeneration (specifically infantile-onset neurodegeneration with optic atrophy and brain abnormalities)alterations in MEF2B itself are linked to diffuse large B-cell lymphoma
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