Elongation Protein 4 (ELP4)
PAX6NEB; PAXNEB; C11orf19; PAX6 neighbor gene protein
ELP4 encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.If ELP is not working properly or is not being expressed at the correct levels then the neurons in that region in particular would not be properly situated in relation to each other for proper brain activity. The expression of ELP and ELP4 in particular is the cause of Rolandic epilepsy and possibly other cognitive impairment later in life if the condition is severe enough or if it is not treated effectively.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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Organism species: Rattus norvegicus (Rat)
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