tRNA splicing endonuclease subunit 34
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalCerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomal+3 more panels — install the extension to see the full list inline on any page.
pontocerebellar hypoplasia type 2C
pontocerebellar hypoplasia type 2
pontocerebellar hypoplasia
Non-syndromic pontocerebellar hypoplasia
placental abruption
asthma
Crohn disease
in situ carcinoma
intellectual disability, autosomal recessive 57
IgA glomerulonephritis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
tRNA-splicing endonuclease subunit Sen34
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. It probably carries the active site for 3'-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
TSEN34 · Q9BSV6
Mean pLDDT
83.6/ 100
Confident
310 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
