Golgi apparatus membrane protein TVP23 homolog C–CDRT4 readthrough (TVP23C-CDRT4)

The Golgi apparatus membrane protein TVP23 homolog C–CDRT4 readthrough (abbreviated as TVP23C-CDRT4) is a naturally occurring human gene fusion event between the neighboring TVP23C (trans-Golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. The canonical protein product shares most of its N-terminal sequence with TVP23C but has a unique C-terminus due to a frameshift at the fusion point. TVP23C is implicated in protein secretion and vesicle trafficking within the Golgi apparatus, while the specific function of the CDRT4 portion and the fusion product remains poorly characterized. The TVP23C-CDRT4 fusion has been identified, at the transcript level, in a subset (3/15) of adenoid cystic carcinoma samples, suggesting a possible role as a cancer biomarker—particularly for distinguishing the solid type of ACC. There is currently no evidence supporting TVP23C-CDRT4 as a therapeutic drug target, and no drugs, mechanisms of action, or safety concerns have been described for this fusion protein. Clinical and functional implications of this fusion remain poorly understood, and further studies are required to determine its precise biological and pathological roles.

Other names

FAM18B2FAM18B2-CDRT4TVP23Cuncharacterized protein LOC100533496FAM18B2-CDRT4 readthroughTVP23C-CDRT4 readthroughGolgi apparatus membrane protein TVP23 homolog C