Nucleoporin 54 (NUP54)

Nucleoporin 54 (NUP54) is a structural protein that forms part of the nuclear pore complex (NPC), a large multi-protein assembly embedded in the nuclear envelope of eukaryotic cells[1][2][3][5]. The NPC regulates the bidirectional exchange of macromolecules between the nucleus and cytoplasm and is vital for cellular compartmentalization. NUP54, alongside Nup62 and Nup58, constitutes the central transport channel of the NPC, participating in the formation of a flexible ring-like structure critical for pore function and size modulation[2]. NUP54 is an FG-repeat-containing nucleoporin and is essential not only as a structural component but also in maintaining genome integrity through a specific role in the homologous recombination (HR) repair of DNA double-strand breaks, particularly in response to DNA-damaging agents like ionizing radiation[4]. Genetic alterations in NUP54 are linked to neurodegenerative disorders such as Dystonia 37 with striatal lesions and familial infantile bilateral striatal necrosis[5]. There are currently no known drugs that specifically target NUP54, nor is it considered a conventional therapeutic target such as a receptor or enzyme.

Other names

Nucleoporin p5454 kDa nucleoporinDYT37nucleoporin 54kDnucleoporin 54kDa