SNCA
Chr 4ADsynuclein alpha
Also known as: NACP, PARK1, PARK4, PD1
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]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNCA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Longitudinal Investigation of I2BS in PD
RECRUITINGObserve Change in Nasal Swab DRD2 Gene Expression in Restless Legs Syndrome (RLS) Patients on Prolonged Dopamine Agonist Treatment
RECRUITINGChinese PD-SNCA Registry
RECRUITINGSafety, Tolerability and Exploratory Efficacy of EC5026 in Parkinson's Disease (STEP Study)
RECRUITINGMolecular and Functional Imaging in Monogenic PD.
RECRUITINGYoung Onset Parkinson's Disease Subtypes and Pathogenic Mechanisms
RECRUITINGSerotonin Release in Premotor and Motor PD
RECRUITINGUnderstanding Alpha-Synuclein Spread in Parkinson's Disease Through Blood Biomarkers and Neuroimaging
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools