ELP1 elongator acetyltransferase complex subunit 1
Gene ID: 8518, updated on 2-Nov-2024Gene type: protein coding
Also known as: FD; DYS; IKAP; IKI3; TOT1; IKBKAP
- See all available tests in GTR for this gene
- Go to complete Gene record for ELP1
- Go to Variation Viewer for ELP1 variants
Summary
The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial dysautonomia | See labs |
| Medulloblastoma | See labs |
Genomic context
- Location:
- 9q31.3
- Sequence:
- Chromosome: 9; NC_000009.12 (108867517..108934124, complement)
- Total number of exons:
- 37
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ELP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IKBKAP homepage - Leiden Muscular Dystrophy pages
- 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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