| Modification Notes |
AFF4 (AF4/FMR2 family, member 4), also known as MCEF or AF5Q31, localizes to the nucleus and is a member of the AF4 family of transcription factors. Ubiquitously expressed with highest expression in placenta, heart, pancreas and skeletal muscle, AFF4 is a 1,163 amino acid component of the positive transcription elongation factor b (P-TEFb) complex that contains Cdk9 (cyclin-dependent kinase 9) and cyclin T1. AFF4 is thought to function as a transcription factor that positively regulates transcription during fetal development, as well as in adult tissue. Defects in the gene encoding AFF4 lead to expression of an MLL-AFF4 (myeloid/lymphoid or mixed-lineage leukemia-AFF4) fusion protein that is found in acute lymphoblastic leukemia (ALL), implicating AFF4 in the pathogenesis of ALL. Three isoforms of AFF4 are expressed due to alternative splicing events. |