TSEN34

Chr 19

tRNA splicing endonuclease subunit 34

Also known as: LENG5, PCH2C, SEN34, SEN34L

NCBI Gene: 79042 ENSG00000170892 UniProt: Q9BSV6

The protein functions as a catalytic subunit of the tRNA splicing endonuclease complex, which removes introns from precursor tRNAs and is involved in pre-mRNA 3-prime end processing. Mutations cause pontocerebellar hypoplasia type 2C, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of tRNA processing, which impairs protein synthesis and leads to the characteristic pontocerebellar developmental abnormalities.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPontocerebellar hypoplasia 2C

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.58

LOEUF

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Mechanism

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GeneReview available — TSEN34