SNCA Chromosome 4
Synuclein alpha
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What This Gene Does
Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Synuclein family
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000145335
Associated Conditions (5)
Autosomal dominant Parkinson disease 1
Lewy body dementia
Autosomal dominant Parkinson disease 4
Parkinson Disease
Dominant
Key Variants
RS1282495545
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4
Health Risk
RS144758871
Conflicting classifications of pathogenicity
Lewy body dementia, Autosomal dominant Parkinson disease 1, Parkinson Disease
Health Risk
RS149401968
Conflicting classifications of pathogenicity
Lewy body dementia, Autosomal dominant Parkinson disease 1, Lewy body dementia
Health Risk
RS1739238968
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1
Health Risk
RS2110525413
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, Lewy body dementia
Health Risk
RS527798413
Conflicting classifications of pathogenicity
Parkinson Disease, Dominant, Parkinson Disease
Health Risk
RS532025477
Conflicting classifications of pathogenicity
Parkinson Disease, Dominant, Parkinson Disease
Health Risk
RS542171324
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4
Health Risk
RS104893878
Likely pathogenic
Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1
Health Risk
RS104893875
Pathogenic
Lewy body dementia, Autosomal dominant Parkinson disease 1, Lewy body dementia
Health Risk
RS104893877
Pathogenic
Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4
Health Risk
RS431905511
Pathogenic
Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1282495545 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4 |
| RS144758871 | Health Risk | Conflicting classifications of pathogenicity | Lewy body dementia, Autosomal dominant Parkinson disease 1, Parkinson Disease |
| RS149401968 | Health Risk | Conflicting classifications of pathogenicity | Lewy body dementia, Autosomal dominant Parkinson disease 1, Lewy body dementia |
| RS1739238968 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1 |
| RS2110525413 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4, Lewy body dementia |
| RS527798413 | Health Risk | Conflicting classifications of pathogenicity | Parkinson Disease, Dominant, Parkinson Disease |
| RS532025477 | Health Risk | Conflicting classifications of pathogenicity | Parkinson Disease, Dominant, Parkinson Disease |
| RS542171324 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4 |
| RS104893878 | Health Risk | Likely pathogenic | Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1 |
| RS104893875 | Health Risk | Pathogenic | Lewy body dementia, Autosomal dominant Parkinson disease 1, Lewy body dementia |
| RS104893877 | Health Risk | Pathogenic | Autosomal dominant Parkinson disease 1, Lewy body dementia, Autosomal dominant Parkinson disease 4 |
| RS431905511 | Health Risk | Pathogenic | Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1 |