TRNT1 pseudogene 1 (TRNT1P1)

TRNT1P1 is classified as a pseudogene, meaning it is a non-coding DNA sequence that is similar to the functional TRNT1 gene but generally does not produce a functional protein and does not play an active biological role. The functional gene, TRNT1, encodes the enzyme tRNA nucleotidyl transferase 1, which is essential for catalyzing the addition of the CCA trinucleotide sequence at the 3' end of tRNAs, a critical step for tRNA maturation in both cytoplasmic and mitochondrial compartments[1][2][3][4]. Mutations in the TRNT1 gene (not the pseudogene) are linked to multisystem disorders such as sideroblastic anemia with immunodeficiency, periodic fevers, retinitis pigmentosa, and developmental delay[1][3][4]. However, TRNT1P1 itself lacks evidence for expression, protein activity, or disease involvement, and is not recognized as a therapeutic target in biomedical research.

Other names

TRNT1P1tRNA nucleotidyl transferase 1 pseudogene 1