Nucleoporin 188
Nucleoporin 188 (Nup188) is a protein that in humans is encoded by the NUP188 gene. It is a component of the nuclear pore complex, a structure that regulates the transport of molecules between the nucleus and the cytoplasm.
Function[edit | edit source]
Nup188 is a member of the nucleoporin family, proteins that are the main constituents of the nuclear pore complex in eukaryotic cells. The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. Nup188 is a non-essential, evolutionarily conserved nucleoporin that is located at the nuclear pore complex.
Structure[edit | edit source]
The NUP188 gene encodes a protein of 188 kDa, hence the name Nucleoporin 188. The protein has a modular structure, with distinct domains responsible for its function in the nuclear pore complex. It contains multiple coiled coil regions, which are thought to mediate protein-protein interactions.
Clinical significance[edit | edit source]
Mutations in the NUP188 gene have been associated with a variety of human diseases, including Hutchinson-Gilford progeria syndrome, a rare genetic condition characterized by an appearance of accelerated aging in children.
See also[edit | edit source]
References[edit | edit source]
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