SIAH1 Chromosome 16
Siah E3 ubiquitin protein ligase 1
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What This Gene Does
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]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000196470
Associated Conditions (3)
See cases
Buratti-Harel syndrome
Neurodevelopmental disorder
Key Variants
RS2544513815
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS2151043928
Likely pathogenic
Buratti-Harel syndrome, Buratti-Harel syndrome
Health Risk
RS2151044134
Likely pathogenic
Buratti-Harel syndrome, Neurodevelopmental disorder, Buratti-Harel syndrome
Health Risk
RS2544513949
Likely pathogenic
See cases, See cases
Health Risk
RS2544514083
Likely pathogenic
Buratti-Harel syndrome, Buratti-Harel syndrome
Health Risk
RS2544514321
Likely pathogenic
Health Risk
RS2151043908
Pathogenic
Buratti-Harel syndrome, Buratti-Harel syndrome
Health Risk
RS2151043918
Pathogenic
Buratti-Harel syndrome, Buratti-Harel syndrome
Health Risk
RS2151044011
Pathogenic
Buratti-Harel syndrome, Buratti-Harel syndrome
Health Risk
RS2151044152
Pathogenic
Buratti-Harel syndrome, Buratti-Harel syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544513815 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS2151043928 | Health Risk | Likely pathogenic | Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151044134 | Health Risk | Likely pathogenic | Buratti-Harel syndrome, Neurodevelopmental disorder, Buratti-Harel syndrome |
| RS2544513949 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2544514083 | Health Risk | Likely pathogenic | Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2544514321 | Health Risk | Likely pathogenic | — |
| RS2151043908 | Health Risk | Pathogenic | Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151043918 | Health Risk | Pathogenic | Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151044011 | Health Risk | Pathogenic | Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2151044152 | Health Risk | Pathogenic | Buratti-Harel syndrome, Buratti-Harel syndrome |