ELP4 elongator acetyltransferase complex subunit 4
Gene ID: 26610, updated on 5-Mar-2024Gene type: protein coding
Also known as: AN; AN2; hELP4; PAXNEB; PAX6NEB; C11orf19; dJ68P15A.1
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- Go to complete Gene record for ELP4
- Go to Variation Viewer for ELP4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aniridia 2 | See labs |
| Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative. GeneReviews: Not available |
Genomic context
- Location:
- 11p13
- Sequence:
- Chromosome: 11; NC_000011.10 (31509767..31790324)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ELP4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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