AFF1, AF4, FEL, MLLT2, PBM1, AF4/FMR2 family member 1, ALL1-fused gene from chromosome 4 protein, Protein AF-4, Protein FEL, Proto-oncogene AF4
This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in mudisease:A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4,11)(q21,q23) with MLL/HRX. The result is a rogue activator protein.,similarity:Belongs to the AF4 family.,
