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Symbol ELP1 contributors: mct/shn - updated : 07-05-2019
HGNC name elongator complex protein 1
HGNC id 5959
  • various RNA-interference-based depletions of IKAP lead to defective adhesion and migration in several cell types, including rat primary neurons
  • in the mouse model carrying the complete human IKBKAP locus with the FD IVS20+6T-->C splice mutation, the mutant IKBKAP transgene is misspliced in this model in a tissue-specific manner that replicates the pattern seen in familial dysautonomia patient tissues
  • Depletion of IKAP resulted in a significant decrease in filamin A localization in membrane ruffles and defective actin cytoskeleton organization
  • mouse lines caring the human IVS20+6T>C splice site mutation in the IKBKAP gene exhibit the same tissue-specific aberrant splicing patterns as seen in Familial dysautonomia patients