NUP133
Description
NUP133, also known as Nup133, is a protein that plays a vital role in the structure and function of the nuclear pore complex (NPC), the gatekeeper of the nucleus. It is a component of the nuclear basket, a structure that protrudes into the nucleoplasm and is involved in regulating the transport of molecules between the cytoplasm and the nucleus. NUP133 interacts with various proteins involved in nuclear transport, mRNA export, and transcription. It also contributes to the assembly and disassembly of the NPC during cell division.
Associated Diseases
- **Neurodevelopmental disorders:** Mutations in NUP133 have been linked to intellectual disability, autism spectrum disorder, and other neurodevelopmental disorders.
- **Cancer:** Aberrant expression of NUP133 has been observed in several types of cancer, suggesting its potential role in tumorigenesis and cancer progression.
- **Other diseases:** NUP133 may also be implicated in other diseases, including muscular dystrophy and premature aging.
Did you know?
NUP133 is one of the largest known proteins in humans, with a molecular weight of over 200 kDa.
