ELP1/IKBKAP Antibody #5071

Elongator is a highly conserved transcription elongation factor complex that was first identified in yeast as part of the hyperphosphorylated RNA polymerase II (RNAPII) holoenzyme (1). The Elongator complex consists of 6 subunits, ELP1-6, and has been shown to have acetyltransferase activity (2). The acetylation targets of Elongator include histone H3, which is linked to the transcription elongation function of the complex, and α-tubulin, which is associated with regulation of migration and maturation of projection neurons (3-6).
The ELP1/IKBKAP subunit of Elongator was initially thought to function as a scaffolding protein within the NFκB signaling pathway (7). It contains several WD40 domains and is critical for the formation of the Elongator complex (8). Investigators have determined that mutations in ELP1 are the cause of Familial Dysautonomia (FD), an autosomal recessive neurodegenerative disorder (9). Research studies have demonstrated that defects in Elongator function upon ELP1 mutation affect transcription elongation of several genes involved in cell motility and neuronal development that may be the underlying cause of the neuropathology of FD patients (10,11).