Aliases for TSEN54 Gene
External Ids for TSEN54 Gene
Previous GeneCards Identifiers for TSEN54 Gene
This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]
GeneCards Summary for TSEN54 Gene
TSEN54 (TRNA Splicing Endonuclease Subunit 54) is a Protein Coding gene. Diseases associated with TSEN54 include Pontocerebellar Hypoplasia, Type 4 and Pontocerebellar Hypoplasia, Type 5. Among its related pathways are Transcription of tRNA and tRNA processing.
UniProtKB/Swiss-Prot Summary for TSEN54 Gene
Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.