IKBKAP


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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.
References in periodicals archive ?
The affected gene is called IKBKAP When mutated, it encodes a defective version of a protein called IKAP While it's clear that lack of IKAP can cause familial dysautonomia, the normal function of the protein is unknown, Gusella says.
If both,parents harbor the IKBKAP mutation, which is recessive, a child has a 1 in 4 chance of having the condition and a 50 percent chance of being a carrier of the defect.
On occasion, physicians come across a second, milder form of familial dysautonomia This apparently stems from inheriting an even rarer mutation in IKBKAP from one parent and the more common mutation from the other.