Target intelligence / Profile preview

Elongator acetyltransferase complex subunit 4 (ELP4)

Target
ELP4
Molecular classification
Elongator acetyltransferase complex subunit, Enzyme complex component (histone acetyltransferase complex), Other
01

Overview

Elongator acetyltransferase complex subunit 4 (ELP4) is a key component of the six-subunit Elongator complex, a histone acetyltransferase complex evolutionarily conserved in eukaryotes[1][3][5]. ELP4 contributes to multiple cellular functions, including histone acetylation and tRNA modification, which are important for transcriptional elongation and mRNA decoding[1][3][4][5][8]. ELP4 links together other subunits of the Elongator complex, facilitating stability and enzymatic activity. Dysfunction of ELP4, such as through genetic polymorphisms or deletions, has been implicated in several neurodevelopmental disorders (particularly Rolandic epilepsy, language delays, and autism), as well as certain ocular malformations through disruption of the adjacent PAX6 regulatory landscape[1]. There are no known direct drug interactions or common use as a therapeutic target; its primary interest is in disease genetics and rare neurodevelopmental syndromes[1][5][8].

Other names
Elongator complex protein 4Elongation protein 4 homologC11orf19PAXNEBPAX6 neighbor gene proteinANAN2dJ68P15A.1hELP4PAX6NEBHELP4DJ68P15A.1
02

Biological functions

Histone acetylationtRNA modificationTranscriptional elongationRNA polymerase II associationGene expression regulationCellular nitrogen compound metabolic processChromosomal organization
03

Disease associations

Neurodevelopmental disorders (including epilepsy, language impairment, autism)Ocular malformations (e.g., aniridia)Other
04

Safety considerations

Disruption can cause neurodevelopmental and ocular disorders[1]Genetic variants influence disease risk and phenotype variability[1]
05

Biomarkers

ELP4 polymorphisms (such as rs986527) in neurological disorders[1]

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