NUP98

NUP98

A gene on chromosome 11p15.5 that encodes a nucleoporin (one of the estimated 50 nucleoporins), which derives from cleavage of a 186-kDa precursor and functions as one of several docking site nucleoporins of transport substrates.

Molecular pathology
NUP98 fuses to several genes after chromosome translocations in acute myeloid leukaemia (AML) and T-cell acute lymphocytic leukaemia (T-ALL), and is one of several genes located in the imprinted gene domain of 11p15.5, a tumour-suppressor gene region. Alterations in 11p15.5 region are associated with the Beckwith-Wiedemann syndrome, Wilms tumour, rhabdomyosarcoma and adrenocortical carcinoma, as well as lung, ovarian and breast cancers.
Mentioned in ?
References in periodicals archive ?
The three most common MPT families in AML represent translocations of the MLL, RUNX1 and NUP98 genes.
Fusion of the nucleoporin gene, NUP98, and the putative RNA Helicase Gene, DZXX10, by Inversion 11 (p15q22) chromosome translocation in a patient with etoposide-related myelodysplastic syndrome.
11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome.
Topics include maintenance of quiescent hematopoietic stem cells in the osteoblastic niche, NUP98 dysregulation in myeloid leukemogenesis, the role of thrombopoietin in mast cell differentiation, and the effect of FLT3 inhibition on normal hematopoietic progenitor cells.