ab172730 - Rabbit monoclonal IgG, is suitable for use as an isotype control with this antibody.
Is unsuitable for IHC-P or IP.
May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK). Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.
Involvement in disease
Defects in IKBKAP are the cause of hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900]; also known as Riley-Day syndrome or familial dysautonomia (FD). This autosomal recessive disorder is due to the poor development and survival, and progressive degeneration of the sensory, sympathetic and parasympathetic neurons. HSAN3 individuals are affected with a variety of symptoms such as decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises, and gastrointestinal dysfunction. It is primarily confined to individuals of Ashkenazi Jewish descent, with an incidence of 1/3'600 live births.