TRIP4 thyroid hormone receptor interactor 4
Gene ID: 9325, updated on 17-Sep-2024Gene type: protein coding
Also known as: ASC1; ASC-1; MDCDC; SMABF1; ZC2HC5; HsT17391
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- Go to complete Gene record for TRIP4
- Go to Variation Viewer for TRIP4 variants
Summary
This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | See labs |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available | |
| Spinal muscular atrophy with congenital bone fractures 1 | See labs |
Genomic context
- Location:
- 15q22.31
- Sequence:
- Chromosome: 15; NC_000015.10 (64387836..64455303)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TRIP4 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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