ELP4

Chr 11AD

elongator acetyltransferase complex subunit 4

Also known as: AN, AN2, C11orf19, PAX6NEB, PAXNEB, dJ68P15A.1, hELP4

NCBI Gene: 26610 ENSG00000109911 UniProt: Q96EB1 OMIM: 606985

The protein is a component of the elongator complex, which catalyzes tRNA modifications including carboxymethyluridine formation at the wobble base position in tRNAs. Mutations cause aniridia 2, inherited in an autosomal dominant pattern. The gene is not highly constrained against loss-of-function variants, suggesting the pathogenic variants may work through other mechanisms.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene 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. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Aniridia 2MIM #617141

Clinical highlights

Gene-disease validity (ClinGen)

ocular dysgenesis caused by defects in PAX6 regulation · ADModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.03

LOEUF

LOF

Mechanism· G2P