TSEN2 Antibody – Rabbit Polyclonal

This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

SEN2: Constitutes one of the two 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. Isoform 1 probably carries the active site for 5'-splice site cleavage. 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. Isoform 2 is responsible for processing a yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it retains endonucleolytic activity. Defects in TSEN2 are the cause of pontocerebellar hypoplasia type 2B (PCH2B). Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings. Belongs to the tRNA-intron endonuclease family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Ribonuclease; EC 4.6.1.16; Nucleolus; RNA processing

Chromosomal Location of Human Ortholog: 3p25.2

Cellular Component: centrosome; cytoplasm; nucleolus; nucleoplasm; tRNA-intron endonuclease complex

Molecular Function: lyase activity; nucleic acid binding; protein binding; tRNA-intron endonuclease activity

Biological Process: gene expression; mRNA processing; tRNA processing; tRNA splicing; tRNA-type intron splice site recognition and cleavage

Disease: Pontocerebellar Hypoplasia, Type 2b