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TSEN34
tRNA splicing endonuclease subunit 34
TSEN34 is located on the long (q) arm of chromosome 19, at band 19q13.42. Arm ratio per GRCh38 - banding schematic.
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Overview
TSEN34 is located on chromosome 19 and produces a protein that forms part of the tRNA splicing endonuclease complex. Transfer RNAs are small RNA molecules that deliver amino acids during protein synthesis, and many tRNA genes produce immature transcripts containing extra sequences called introns. The endonuclease complex recognises and removes these introns, generating mature tRNAs capable of participating in translation. The TSEN34 subunit works alongside other components of this multi-protein complex to ensure accurate splicing. Disruptions to tRNA processing can affect cellular protein production, with potential consequences for tissues with high metabolic demands.
What the gene does
The TSEN34 protein functions as one of four core subunits in the tRNA splicing endonuclease complex, which operates in the nucleus of human cells. This complex recognises the characteristic three-dimensional structure of precursor tRNA molecules and catalyses the precise excision of intron sequences. The endonuclease makes cuts at specific positions flanking the intron, releasing it and leaving two tRNA fragments that are subsequently joined together by a separate ligase enzyme. The TSEN34 subunit contributes to the structural integrity and catalytic activity of the complex, enabling it to process multiple different tRNA species. Efficient tRNA splicing is essential for maintaining the cellular pool of functional transfer RNAs, which in turn supports ongoing protein synthesis across all cell types. Cells with particularly high protein production requirements, such as neurons and muscle cells, may be especially dependent on robust tRNA processing.
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Chromosome location
TSEN34 is located on the long arm of chromosome 19 at position 13.42, designated cytogenetically as 19q13.42. This chromosomal region contains numerous genes involved in diverse cellular processes. The complete genomic structure of TSEN34, including exon count and transcript organisation, has not been fully characterised in publicly available databases.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in TSEN34 can alter the sequence of the encoded protein, potentially affecting its ability to assemble into the endonuclease complex or participate in catalysis. The impact of individual variants depends on their location within the gene and the nature of the amino acid change. Some sequence changes may be benign polymorphisms with no functional consequence, whilst others could impair tRNA splicing efficiency. The clinical significance of most TSEN34 variants remains under investigation.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Research into associations between TSEN34 variants and human disease is ongoing. Genes encoding other subunits of the tRNA splicing endonuclease complex have been linked to neurological conditions, suggesting that disruption of tRNA processing can have tissue-specific effects. However, definitive disease associations for TSEN34 specifically have not been established in large-scale genetic studies. Further research is needed to clarify whether variants in this gene contribute to inherited conditions.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the TSEN34 protein do in cells?
TSEN34 is one component of the tRNA splicing endonuclease complex, which removes intron sequences from immature transfer RNA molecules. This processing step is necessary to produce functional tRNAs that can participate in protein synthesis.
Where is the TSEN34 gene located?
TSEN34 is located on chromosome 19 at position 19q13.42, on the long arm of the chromosome.
How are variants in TSEN34 inherited?
The inheritance pattern for pathogenic TSEN34 variants has not been definitively established, as disease associations remain under investigation. Genes encoding related endonuclease subunits can follow recessive inheritance patterns, but each gene must be assessed independently.
References
- Namavar Y, Barth PG, Kasher PR. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain : a journal of neurology. 2011. PMID: 20952379