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NUP214

MIM.114350 9q34.1

Tuesday 19 June 2007

Definition: CAN/Nup214 is an FXFG repeat-containing protein involved in myeloid leukemia in humans. It a component of the vertebrate nuclear pore complex (NPC), a 125-megadalton multiprotein assembly that mediates nucleocytoplasmic transport.

Pathology

- fusion genes in leukemias

Pathology

- DEK-NUP214 (CAN-DEK) fusion gene

References

- The t(6;9) associated DEK/CAN fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation. Oancea C, RĂ¼ster B, Henschler R, Puccetti E, Ruthardt M. Leukemia. 2010 Nov;24(11):1910-9. PMID: 20827285

- Graux, C.; Cools, J.; Melotte, C.; Quentmeier, H.; Ferrando, A.; Levine, R.; Vermeesch, J. R.; Stul, M.; Dutta, B.; Boeckx, N.; Bosly, A.; Heimann, P.; and 12 others : Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nature Genet. 36: 1084-1089, 2004. PubMed ID : 15361874

- von Lindern, M.; Poustka, A.; Lehrach, H.; Grosveld, G. : The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34. Molec. Cell. Biol. 10: 4016-4026, 1990. PubMed ID : 2370860