Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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.
基因功能參考文獻:
TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins. PMID: 26701950
A novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia PMID: 24938831
TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family. PMID: 21468723
The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54. PMID: 21383226
We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype. PMID: 20956791
In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. PMID: 18711368