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Official Full Name: ALF transcription elongation factor 1
Also known as: AF4; FEL; PBM1; MLLT2
This gene encodes a member of the AF4/lymphonuclein protein family associated with the Fragile X chromosome E syndrome (FRAXE) protein family, which is associated with human childhood lymphocytic leukemia, fragile X intellectual disability, and ataxia. It is a prevalent mixed lineage leukemia fusion gene associated with idiopathic acute lymphoblastic leukemia. Members of this family have three conserved domains: the N-terminal homology domain, the AF4/lymphonucleoprotein domain, and the C-terminal homology domain. This protein regulates RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Screened by RNA interference, 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.