IKBKAP

A 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.
Molecular pathology
Defects in IKBKAP cause familial dysautonomia, also known as hereditary sensory and autonomic neuropathy type 3, or Riley-Day syndrome.

单词	ikbkap
释义	EncyclopediaSeedysautonomia IKBKAP IKBKAP A 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. Molecular pathology Defects in IKBKAP cause familial dysautonomia, also known as hereditary sensory and autonomic neuropathy type 3, or Riley-Day syndrome.
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