tRNA splicing endonuclease subunit 54 (TSEN54)

tRNA splicing endonuclease subunit 54 (TSEN54) is a non-catalytic subunit of the tRNA splicing endonuclease complex, an essential cellular enzyme responsible for processing pre-tRNA by removing introns at specific splice sites, which is required for the production of mature, functional tRNA molecules[1][2][3][5][6][7][10]. TSEN54 acts primarily as a structural scaffold and plays a pivotal role in substrate recognition by “measuring” the geometry of pre-tRNA, anchoring it within the multi-subunit complex and ensuring correct cleavage[2][10]. In addition to its central role in tRNA splicing, the complex is implicated in mRNA 3'-end processing and polyadenylation, and possibly other RNA-processing events[1][3][5][6]. Mutations in TSEN54 cause severe neurodevelopmental diseases known as pontocerebellar hypoplasias (PCH), especially types 2A, 4, and 5, which present with profound brain abnormalities, intellectual disability, delayed development, and other neurological deficits[1][7][9]. The pathological mechanism involves failure of tRNA (and potentially mRNA) processing, leading to neurodegeneration and impaired brain growth.

Other names

tRNA-splicing endonuclease subunit Sen54SEN54HsSEN54SEN54LTSEN54 homologtRNA-intron endonuclease Sen54PCH2APCH4PCH5sen54TSEN54phTSEN54E7EN92J3KRC5