蛋白名称
tRNA-splicing endonuclease subunit Sen54
免疫原
The antiserum was produced against synthesized peptide derived from human TSEN54. AA range:261-310
特异性
TSEN54 Monoclonal Antibody detects endogenous levels of TSEN54 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
TSEN54; SEN54; tRNA-splicing endonuclease subunit Sen54; SEN54 homolog; HsSEN54; tRNA-intron endonuclease Sen54
背景
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],
功能
disease:Defects in TSEN54 are the cause of pontocerebellar hypoplasia type 2A (PCH2A) [MIM:277470]. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings.,disease:Defects in TSEN54 are the cause of pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753]. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH4 is characterized by severe course and early lethality.,function: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 a
