Analysis of NUP98 Gene Rearrangement by Southern Blot Technology (CAT#: STEM-MHT-0039-LGZ)

Introduction

Official Full Name: nucleoporin 98 and 96 precursor
Also known as: ADIR2; NUP96; NUP196; Nup98-96
Nuclear pore complexes (NPCs) are complexes that regulate the transport of macromolecules between the nucleus and cytoplasm, and consist of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein, which undergoes autoproteolytic cleavage to produce a 98 kDa nucleoporin and a 96 kDa nucleoporin. The 98 kDa nucleoporin contains a glly-leu-ph-gly (GLGF) repeat domain and is involved in many cellular processes, including nuclear import, nuclear export, mitotic processes, and regulation of gene expression. 96kda nucleoporin is a scaffold component of nasopharyngeal carcinoma. Proteolytic cleavage is important for protein targeting to NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements often result in mosaicism of the n-terminal GLGF domain of this gene with the c-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region encoding the 96 kda nucleoporin.