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TSEN54 encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. Additionally we are shipping tRNA Splicing Endonuclease 54 Homolog (S. Cerevisiae) Antibodies (10) and many more products for this protein.
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knockdown of tsen54 in zebrafish embryos results in loss of structural definition in the brain
TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins.
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 (show USP14 Proteins)
TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family.
The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54.
We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 (show TRIP13 Proteins) phenotype.
In two subtypes, PCH2 (show TRIP13 Proteins) and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex.
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.
tRNA splicing endonuclease 54 homolog (S. cerevisiae)
, tRNA-splicing endonuclease subunit Sen54
, tRNA splicing endonuclease 54 homolog
, tRNA-splicing endonuclease subunit Sen54-like
, likely ortholog of H. sapiens SEN54L
, tRNA-intron endonuclease Sen54
, SEN54 homolog