{"symbol":"AFF1","synonyms":["AF4","MLLT2","PBM1"],"name":"AF4/FMR2 family, member 1","description":"This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, 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 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. [provided by RefSeq, Jul 2017]","ncbiEntrezGeneId":4299,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4299","proteins":[{"symbol":"AFF1_HUMAN","href":"/api/1.0/protein/AFF1_HUMAN"}],"hgncRootFamilies":[]}