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Symbol ELP1 contributors: mct/shn - updated : 07-05-2019
HGNC name elongator complex protein 1
HGNC id 5959
corresponding disease(s) HSAN3 , FD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in Hirschsprung disease, and association was stronger in patients carrying RET no coding sequence mutations
Susceptibility to bronchial asthma
Variant & Polymorphism SNP Cys1072 ser/Pro1158 Leu
Candidate gene
Therapy target
  • treatment of Familial dysautonomia lymphoblast cell lines with kinetin increases IKBKAP mRNA and IKAP protein to normal levels
  • kinetin is capable to alter the IKBKAP splicing in the transgenic mice carrying the Familial dysautonomia BAC containing the the IVS20+6T>C splice site mutation and to correct the IKBKAP splicing in all major tissues including the brain
  • SystemTypeDisorderPubmed
    kinetin therapeutic in dysautonomia and perhaps in other splicing disorder
  • 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