SNCA rs356182
Progress Timeline
- Submitted
- Validated
Queue Position
Position #7 of 7 queued folds
Estimated wait: ~7 days (based on ~1 fold per day capacity)
Rationale
Synuclein is a presynaptic neuronal protein that is linked genetically and neuropathologically to Parkinson's disease (PD). α-Synuclein may contribute to PD pathogenesis in a number of ways, but it is generally thought that its aberrant soluble oligomeric conformations, termed protofibrils, are the toxic species that mediate disruption of cellular homeostasis and neuronal death, through effects on various intracellular targets, including synaptic function. Furthermore, secreted α-synuclein may exert deleterious effects on neighboring cells, including seeding of aggregation, thus possibly contributing to disease propagation. Although the extent to which α-synuclein is involved in all cases of PD is not clear, targeting the toxic functions conferred by this protein when it is dysregulated may lead to novel therapeutic strategies not only in PD, but also in other neurodegenerative conditions, termed synucleinopathies.
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Activity Log
Hypothesis submitted
Validation Results
UniProt
Found
Gene: SNCA
Protein: None
Accession: D6RA31
ClinVar
Not Found
No clinical annotations found for this variant
gnomAD
Not Found
No population frequency data found
PubMed
17 papers found
17 publications mention this protein variant