| seven in absentia homolog 1 (Drosophila) | OKDB#: 4586 |
| Symbols: | SIAH1 | Species: | human | ||
| Synonyms: | SIAH1A, | Locus: | 16q12 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Dec. 8, 2011, 12:39 p.m. | by: |
hsueh email:
home page: |
| last update: | Dec. 8, 2011, 12:39 p.m. | by: | hsueh email: |
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