FTSJ1

FTSJ1, also known as FTSJ RNA 2'-O-methyltransferase 1, is a human cytoplasmic tRNA 2'-O-methyltransferase. It modifies tRNAs at positions 32 and 34 in the anticodon loop, playing a crucial role in translation efficiency. FTSJ1 interacts with auxiliary protein WDR6 to catalyze Nm34 formation, which is essential for proper protein synthesis. Dysregulation of FTSJ1 has been linked to X-linked intellectual disability (XLID) and cancers. The protein functions within the translational regulation pathway, and its mutations can lead to mRNA deregulation, affecting brain morphogenesis and cancer development. Research on FTSJ1 could potentially lead to new therapeutic approaches for XLID and cancer treatment.
Recent studies have identified FTSJ1's role in modifying specific tRNAs, such as tRNAPhe(GAA), and its interaction with WDR6, highlighting the importance of tRNA modifications in codon translation efficiency. The understanding of FTSJ1's function and its association with diseases has opened avenues for drug development targeting this enzyme, potentially leading to novel treatments for XLID and other related disorders.