TSEN34
TSEN34[edit | edit source]
TSEN34 is a gene that encodes a subunit of the tRNA splicing endonuclease complex, which is crucial for the processing of precursor tRNA molecules in eukaryotic cells. This complex is responsible for the removal of introns from precursor tRNA, a critical step in the maturation of tRNA molecules that are essential for protein synthesis.
Structure[edit | edit source]
The TSEN34 gene is located on chromosome 19 in humans. The protein encoded by TSEN34 is one of four subunits that form the tRNA splicing endonuclease complex. The other subunits are TSEN2, TSEN15, and TSEN54. Together, these subunits form a heterotetrameric complex that recognizes and cleaves introns from precursor tRNA molecules.
Function[edit | edit source]
The primary function of the TSEN34 protein is to participate in the endonucleolytic cleavage of precursor tRNA molecules. This process involves the recognition of specific intron-exon junctions within the precursor tRNA and the precise cleavage of these junctions to remove the intron. The resulting exons are then ligated to form a mature tRNA molecule that can participate in translation.
The tRNA splicing endonuclease complex, including TSEN34, is essential for the proper processing of tRNA molecules, which are critical for the translation of mRNA into proteins. Defects in this process can lead to a variety of cellular dysfunctions and are associated with certain genetic disorders.
Clinical Significance[edit | edit source]
Mutations in the TSEN34 gene have been associated with a rare neurological disorder known as Pontocerebellar Hypoplasia (PCH). PCH is characterized by the underdevelopment of the cerebellum and pons, leading to severe motor and cognitive impairments. Specifically, mutations in TSEN34 can lead to PCH type 2, which is one of the subtypes of this disorder.
Research into TSEN34 and its role in tRNA processing continues to be an important area of study, as understanding the molecular mechanisms underlying tRNA splicing can provide insights into the pathogenesis of related genetic disorders and potential therapeutic approaches.
Also see[edit | edit source]
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