NUP98

Description

The NUP98 (nucleoporin 98 and 96 precursor) is a protein-coding gene located on chromosome 11.

NUP98 is a protein encoded by the NUP98 gene in humans. It is a component of the nuclear pore complex (NPC), a structure that regulates the movement of molecules between the nucleus and cytoplasm. NUP98 is generated through a process that involves the synthesis and cleavage of a larger precursor protein. It is located on the nucleoplasmic side of the NPC, where it functions as a docking site for transport substrates. NUP98 has been shown to fuse with other genes in some types of leukemia. It is located in a region of the genome that is important for tumor suppression, and alterations in this region have been linked to various cancers. Alternative splicing of the NUP98 gene results in different forms of the protein.

NUP98 is a component of the nuclear pore complex (NPC) and plays a role in its assembly and maintenance. It participates in the bidirectional transport of molecules across the NPC. NUP98 might anchor NUP153 and TPR to the NPC. It collaborates with DHX9 in the activation of transcription and alternative splicing of a specific set of genes. It also contributes to the localization of DHX9 within discrete intranuclear foci known as GLFG-bodies.

NUP98 is also known as ADIR2, NUP196, NUP96, Nup98-96.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing