TSEN54 (gene)
TSEN54 is a gene that provides instructions for making a subunit of an enzyme called tRNA splicing endonuclease. This enzyme, which is made up of four different subunits, is involved in the processing of transfer RNAs (tRNAs), molecules that help assemble protein building blocks (amino acids) into functioning proteins.
Function[edit | edit source]
The TSEN54 gene is part of the tRNA splicing endonuclease complex, which is essential for the maturation of tRNA molecules. The enzyme complex cuts tRNAs into two pieces, a process known as splicing. The pieces are then reattached to form a mature tRNA molecule that can assist in protein assembly.
Clinical significance[edit | edit source]
Mutations in the TSEN54 gene have been associated with several neurological disorders, including Pontocerebellar Hypoplasia type 2 (PCH2) and type 4 (PCH4). These conditions are characterized by underdevelopment of the brain and often result in severe intellectual disability, difficulty with movement, and early death.
Genetics[edit | edit source]
The TSEN54 gene is located on the short (p) arm of chromosome 17 at position 13.3. More precisely, the TSEN54 gene is located from base pair 1,947,476 to base pair 1,951,293 on chromosome 17.
See also[edit | edit source]
References[edit | edit source]
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