IKBKAP(redirected from TOT1)
IKBKAPA gene on chromosome 9q31 that encodes a putative scaffold protein which may assemble active IKK-MAP3K14 complexes and act as subunit of the RNA polymerase II elongator complex, a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme involved in transcriptional elongation. The elongator complex may play a role in chromatin remodelling; it may be involved in acetylation of histone H3 and possibly also H4.
Defects in IKBKAP cause familial dysautonomia, also known as hereditary sensory and autonomic neuropathy type 3, or Riley-Day syndrome.
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