RABBIT ANTI HUMAN IKBKAP

IKBKAP

Phosphate buffered saline

A peptide corresponding to 16 amino acids from near the carboxy terminus of human IKBKAP.

May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA IKKB and MAP3K14/NIK). Ref. 7Ref. 8Acts 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. Ref. 7Ref. 8Subunit structureInteracts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA polymerase II elongator complex (Elongator) which consists of IKBKAP/ELP1 STIP1/ELP2 ELP3 ELP4 and two yet unidentified proteins p30 and p38. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3. Ref. 8Subcellular locationCytoplasm. NucleusRef. 7Ref. 8. Involvement in diseaseDefects in IKBKAP are the cause of familial dysautonomia (FD) [MIM:223900]; also known as Riley-Day syndrome or hereditary sensory and autonomic neuropathy type III. This autosomal recessive disorder is due to the poor development and survival and progressive degeneration of the sensory sympathetic and parasympathetic neurons. FD 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 1/3600 live births. Ref. 2Ref. 11Sequence similaritiesBelongs to the ELP1/IKA1 family. Sequence cautionThe sequence CAB43219. 1 differs from that shown. Reason: Frameshift at position 1286.