Aliases for AFF1 Gene
External Ids for AFF1 Gene
Previous HGNC Symbols for AFF1 Gene
Previous GeneCards Identifiers for AFF1 Gene
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]
GeneCards Summary for AFF1 Gene
AFF1 (AF4/FMR2 Family Member 1) is a Protein Coding gene. Diseases associated with AFF1 include Leukemia, Acute Lymphoblastic 3 and Acute Leukemia. Among its related pathways are Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is AFF4.