AF4 antibody, MLLT2 antibody, PBM1 antibody, 9630032B01Rik antibody, AW319193 antibody, Af4 antibody, Mllt2h antibody, Rob antibody, Mllt2 antibody, AF4/FMR2 family member 1 antibody, AF4/FMR2 family, member 1 antibody, AFF1 antibody, Aff1 antibody
背景
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 multiple transcript variants.