Nucleoporin 62

Nucleoporin 62 (Nup62) is a protein that in humans is encoded by the NUP62 gene. It is a component of the nuclear pore complex, a structure that regulates the movement of molecules between the nucleus and the cytoplasm.

Structure

Nup62 is a member of the nucleoporin family, proteins that are the main components of the nuclear pore complex in eukaryotic cells. The protein has a molecular weight of approximately 62 kDa, hence its name. It is characterized by the presence of phenylalanine-glycine (FG) repeat regions that interact with transport factors to facilitate the passage of molecules through the nuclear pore complex.

Function

Nup62 is involved in the transport of proteins, RNA, and other molecules between the nucleus and the cytoplasm. It acts as a docking site for transport factors and their cargo, facilitating their passage through the nuclear pore complex. In addition, Nup62 is thought to play a role in the regulation of gene expression and cell cycle progression.

Clinical significance

Mutations in the NUP62 gene have been associated with several diseases, including triple A syndrome, a rare autosomal recessive disorder characterized by adrenal insufficiency, alacrima, and achalasia. In addition, alterations in Nup62 expression have been observed in various types of cancer, suggesting a potential role in tumorigenesis.

See also

• Nuclear pore
• Nucleoporin
• Gene expression
• Cell cycle

References

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