SIAH1 siah E3 ubiquitin protein ligase 1
Gene ID: 6477, updated on 2-Nov-2024Gene type: protein coding
Also known as: BURHAS; SIAH1A
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- Go to complete Gene record for SIAH1
- Go to Variation Viewer for SIAH1 variants
Summary
This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Buratti-Harel syndrome | See labs |
Genomic context
- Location:
- 16q12.1
- Sequence:
- Chromosome: 16; NC_000016.10 (48360531..48387246, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SIAH1 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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