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FAM47E-STBD1 readthrough (FAM47E-STBD1)
- Target
- FAM47E-STBD1
- Molecular classification
- Other (readthrough transcript fusion protein), Not a canonical receptor, enzyme, transporter, or major molecular drug target class[1][3]
01
Overview
FAM47E-STBD1 readthrough is a human protein encoded by a naturally occurring readthrough transcript of the neighboring FAM47E and STBD1 genes on chromosome 4. The resultant protein contains sequence from FAM47E, with a unique C-terminal extension resulting from the frameshifted fusion to STBD1. The biological function remains uncharacterized; there is currently no evidence that it acts as a conventional drug target, receptor, enzyme, or transporter. Some disease associations (such as with progressive myoclonus epilepsy 4) are noted in gene databases, but mechanistic links remain unproven[1][3].
- Other names
- FAM47EUncharacterized protein LOC100631383Protein FAM47EFAM47E-STBD1 readthrough[1][3]D6RA91F6W5V1
02
Mechanism of action
None known
03
Biological functions
Unknown/Other; the protein is uncharacterizedShares sequence with FAM47E; distinct C-terminal region due to readthrough transcription[1][3]
04
Disease associations
Progressive myoclonus epilepsy 4 (association reported, mechanistic role unknown)[3]
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