ELP3 elongator acetyltransferase complex subunit 3
Gene ID: 55140, updated on 3-Apr-2024Gene type: protein coding
Also known as: KAT9
- See all available tests in GTR for this gene
- Go to complete Gene record for ELP3
- Go to Variation Viewer for ELP3 variants
Summary
Enables acetyltransferase activity and phosphorylase kinase regulator activity. Involved in regulation of transcription by RNA polymerase II and tRNA wobble uridine modification. Located in cytosol and nucleolus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022]
Genomic context
- Location:
- 8p21.1
- Sequence:
- Chromosome: 8; NC_000008.11 (28090232..28191153)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ELP3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/ELP3 genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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