Gene IKBKAP
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Also known as
ELP1, IKAP, elongator complex protein 1, familial dysautonomia geneOverview
IKBKAP (now officially named ELP1) encodes a subunit of the Elongator complex, which is involved in transcriptional elongation, tRNA modification, and cell migration. The protein plays essential roles in nervous system development and function, particularly in the autonomic and sensory nervous systems.Mutations in IKBKAP cause familial dysautonomia (FD, Riley-Day syndrome), a severe hereditary sensory and autonomic neuropathy predominantly affecting individuals of Ashkenazi Jewish descent. FD is characterized by lack of overflow tears, absence of fungiform papillae on the tongue, blood pressure instability, and decreased pain and temperature sensation. The most common mutation causes tissue-specific exon skipping.
Understanding your IKBKAP genetic status is important for carrier screening in populations at risk for familial dysautonomia. Early diagnosis enables supportive care that can significantly improve quality of life and longevity for affected individuals.