NUP214
MIM.114350 9q34.1
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
- NUP214/DEK fusion gene in acute myeloid leukemia (AML)
- NUP214/ABL1 T-cell acute lymphoblastic leukemia (15361874#)
References
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