TSEN15

TSEN15

TSEN15 is a gene that encodes a protein subunit of the tRNA splicing endonuclease complex, which is crucial for the processing of precursor tRNA molecules in eukaryotic cells. This gene is located on chromosome 3 in humans and is part of a larger family of genes involved in RNA processing.

Function

The TSEN15 gene product is a component of the tRNA splicing endonuclease complex, which is responsible for the removal of introns from precursor tRNA molecules. This process is essential for the maturation of tRNA, which is necessary for the proper translation of genetic information into proteins. The tRNA splicing endonuclease complex is composed of four subunits: TSEN2, TSEN15, TSEN34, and TSEN54. Each of these subunits plays a specific role in recognizing and cleaving the intron-exon junctions in precursor tRNA.

Structure

The TSEN15 protein is a small subunit of the tRNA splicing endonuclease complex. It interacts with the other subunits to form a functional enzyme complex. The precise structure of TSEN15, as well as its interaction with other subunits, is critical for the endonuclease activity of the complex.

Clinical Significance

Mutations in the TSEN15 gene have been associated with a rare neurological disorder known as pontocerebellar hypoplasia (PCH). PCH is characterized by the underdevelopment of the cerebellum and brainstem, leading to severe motor and cognitive impairments. Specifically, mutations in TSEN15 can lead to pontocerebellar hypoplasia type 2 (PCH2), which is one of the subtypes of this disorder.

Research

Ongoing research is focused on understanding the precise molecular mechanisms by which TSEN15 and the tRNA splicing endonuclease complex contribute to tRNA processing and how mutations in these genes lead to neurological disorders. Studies are also exploring potential therapeutic approaches to address the defects caused by these mutations.

Also see

• tRNA splicing endonuclease
• Pontocerebellar hypoplasia
• RNA processing
• TSEN54
• TSEN34
• TSEN2