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Elongator acetyltransferase complex subunit 1 (ELP1) is the largest core subunit and scaffold of the highly conserved, multiprotein Elongator complex, which is essential for tRNA modification, transcriptional regulation, cytoskeletal organization, and neuron development[1][2][3][4]. ELP1 contains multiple WD40 domains and a tetratricopeptide repeat domain, coordinating the assembly and activity of the Elongator complex subunits[1]. Dysfunction of ELP1, due to inherited mutations (e.g., in familial dysautonomia), impairs neuron growth and maintenance by affecting tRNA modification and cytoskeletal dynamics, particularly in the nervous system[2][3][4][5]. No approved drugs currently target ELP1 directly, but it is a disease-modifying gene of major interest in neurogenetic research and a promising, yet challenging, therapeutic target[1][2][4].
Not directly exploited by approved drugs; possible mechanisms include modulating acetylation or restoring Elongator complex function
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