ELP4 Chromosome 11
Elongator acetyltransferase complex subunit 4
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What This Gene Does
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]
Gene Info
Gene Group
Elongator acetyltransferase complex
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000109911
Associated Conditions (6)
Autism spectrum disorder
ELP4-related disorder
Global developmental delay
Seizure
Cognitive impairment
Aniridia 1
Key Variants
RS754625061
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS185031403
Conflicting classifications of pathogenicity
Health Risk
RS200018893
Conflicting classifications of pathogenicity
ELP4-related disorder, ELP4-related disorder
Health Risk
RS34771837
Conflicting classifications of pathogenicity
Health Risk
RS780870860
Conflicting classifications of pathogenicity
Health Risk
RS755762601
Likely pathogenic
Global developmental delay, Seizure, Cognitive impairment
Health Risk
RS758883150
Likely pathogenic
Seizure, Cognitive impairment, Global developmental delay
Health Risk
RS606231388
Pathogenic
Aniridia 1, Aniridia 1
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754625061 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS185031403 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200018893 | Health Risk | Conflicting classifications of pathogenicity | ELP4-related disorder, ELP4-related disorder |
| RS34771837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780870860 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755762601 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Cognitive impairment |
| RS758883150 | Health Risk | Likely pathogenic | Seizure, Cognitive impairment, Global developmental delay |
| RS606231388 | Health Risk | Pathogenic | Aniridia 1, Aniridia 1 |