NFRKB Proteins and Enzymes

NFRKB (nuclear factor related to kappa-B-binding protein) was first identified as a factor that could bind a variant NF-kappa B site in the interleukin-2 receptor alpha (IL-2R alpha) gene. NFRKB appears to be a transcription factor central to immune cell development. Evidence of this comes from the identification of NFRKB as an amplified gene in several cases of acute myeloid leukemia. Additionally, in another clinical case, a partial deletion of the chromosomal region that includes NFRKB is shown to be associated with combined cellular immunodeficiency.