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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNCA
synuclein alpha
Chromosome 4 · 4q22.1
NCBI Gene: 6622Ensembl: ENSG00000145335.18HGNC: HGNC:11138UniProt: H6UYS5
2,255PubMed Papers
23Diseases
2Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
fatty acid bindingphospholipase D inhibitor activitycalcium ion homeostasisglutathione metabolic processHereditary late-onset Parkinson diseaseYoung adult-onset ParkinsonismParkinson diseaseLewy body dementia
✦AI Summary

SNCA encodes α-synuclein, a neuronal protein with multifaceted roles in synaptic function and neurotransmission. As a monomer, α-synuclein enhances synaptic vesicle priming, fusion, and exocytotic pore dilation by increasing local Ca²⁺ release from microdomains 1. In its multimeric membrane-bound state, it functions as a molecular chaperone assisting SNARE complex assembly at the presynaptic membrane, critical for maintaining normal fusion during aging 2. α-synuclein also modulates dopamine neurotransmission by regulating dopamine transporter activity 3. Pathologically, SNCA mutations, duplications, and polymorphisms cause or increase risk for Parkinson disease (PD) and related synucleinopathies 45. Intracellular α-synuclein accumulation is a hallmark of these disorders, with protein aggregates forming Lewy bodies and Lewy neurites 4. Disease-modifying therapeutic approaches target α-synuclein reduction through antisense oligonucleotides 6, enhanced lysosomal degradation via cathepsin D 7, autophagy enhancement 8, and PLK2 inhibition to restore autophagic clearance 9. SNCA overexpression shows sex- and gene-dose-dependent effects on neurodegeneration 10, with males exhibiting more pronounced pathology.

Sources cited
1
α-synuclein enhances synaptic vesicle exocytosis by increasing local Ca²⁺ release from microdomains
PMID: 30404828
2
α-synuclein acts as a molecular chaperone assisting SNARE complex assembly during aging
PMID: 20798282
3
α-synuclein modulates dopamine neurotransmission through dopamine transporter regulation
PMID: 26442590
4
SNCA mutations and polymorphisms cause or increase risk for Parkinson disease
PMID: 25554495
5
α-synuclein is implicated in pathogenesis of PD, DLBD, and MSA; is major constituent of Lewy bodies
PMID: 28213435
6
Antisense oligonucleotides reduce α-synuclein production and prevent pathology in PD models
PMID: 33682798
7
Cathepsin D enhances α-synuclein degradation through lysosomal pathways
PMID: 35287553
8
Small molecules can reduce α-synuclein levels by enhancing autophagic degradation
PMID: 40143425
9
PLK2 inhibition restores autophagic clearance of α-synuclein aggregates
PMID: 39773002
10
SNCA overexpression shows sex- and gene-dose-dependent effects on neurodegeneration, more pronounced in males
PMID: 38043677
Disease Associationsⓘ23
Hereditary late-onset Parkinson diseaseOpen Targets
0.80Strong
Young adult-onset ParkinsonismOpen Targets
0.79Strong
Parkinson diseaseOpen Targets
0.75Strong
Lewy body dementiaOpen Targets
0.75Strong
AL amyloidosisOpen Targets
0.48Moderate
insomniaOpen Targets
0.41Moderate
REM sleep behavior disorderOpen Targets
0.40Moderate
parkinsonian-pyramidal syndromeOpen Targets
0.37Weak
CachexiaOpen Targets
0.34Weak
AnxietyOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.33Weak
schizophreniaOpen Targets
0.31Weak
benign chondrogenic neoplasmOpen Targets
0.31Weak
disease of genitourinary systemOpen Targets
0.31Weak
VitiligoOpen Targets
0.27Weak
neurotic disorderOpen Targets
0.25Weak
COVID-19Open Targets
0.21Weak
irritable bowel syndromeOpen Targets
0.20Weak
Parkinson disease, dominantOpen Targets
0.19Weak
intestinal infectious diseaseOpen Targets
0.16Weak
Dementia, Lewy bodyUniProt
Parkinson disease 1, autosomal dominantUniProt
Parkinson disease 4, autosomal dominantUniProt
Pathogenic Variants9
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)Pathogenic
Autosomal dominant Parkinson disease 1|Autosomal dominant Parkinson disease 1;Lewy body dementia|Autosomal dominant Parkinson disease 4|not provided|Autosomal dominant Parkinson disease 1;Autosomal dominant Parkinson disease 4;Lewy body dementia
★★☆☆2024→ Residue 53
NM_000345.4(SNCA):c.158C>A (p.Ala53Glu)Pathogenic
Lewy body dementia;Autosomal dominant Parkinson disease 1
★☆☆☆2025→ Residue 53
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)Pathogenic
Lewy body dementia|Autosomal dominant Parkinson disease 1;Lewy body dementia
★☆☆☆2023→ Residue 46
NM_000345.4(SNCA):c.152G>A (p.Gly51Asp)Pathogenic
Autosomal dominant Parkinson disease 1
★☆☆☆2022→ Residue 51
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)Likely pathogenic
Autosomal dominant Parkinson disease 1
★☆☆☆2020→ Residue 30
NC_000004.11:g.(?_90647315)_(90756828_?)dupPathogenic
Lewy body dementia;Autosomal dominant Parkinson disease 1
★☆☆☆2019
NC_000004.11:g.(?_90647315)_(90756838_?)dupPathogenic
Lewy body dementia;Autosomal dominant Parkinson disease 1
★☆☆☆2018
NC_000004.12:g.(?_89724098)_(89927969_89934809)dupPathogenic
Autosomal dominant Parkinson disease 1|Lewy body dementia
☆☆☆☆2008
GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3Pathogenic
Autosomal dominant Parkinson disease 4
☆☆☆☆2007
View on ClinVar ↗
Drug Targets2
CINPANEMABPhase II
Alpha-synuclein inhibitor
Parkinson disease
PRASINEZUMABPhase III
Alpha-synuclein binding agent
Parkinson disease
Related Genes
SIAH1Protein interaction100%SIAH2Protein interaction100%SLC6A3Protein interaction100%SNCBProtein interaction100%SNCAIPProtein interaction100%MAOBProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
32%
Ovary
5%
Heart
3%
Lung
2%
Liver
0%
Gene Interaction Network
Click a node to explore
SNCASIAH1SIAH2SLC6A3SNCBSNCAIPMAOB
PROTEIN STRUCTURE
Preparing viewer…
PDB8JJV · 1.23 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.80Intermediate
Observed/Expected LoF0.22 [0.09–0.69]
RankingsWhere SNCA stands among ~20K protein-coding genes
  • #43of 20,598
    Most Researched2,255 · top 1%
  • #2,902of 5,498
    Most Pathogenic Variants9
  • #5,213of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedSNCA
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Alpha-synuclein in Lewy bodies.
PMID: 9278044
Nature · 1997
1.00
2
α-Synuclein antisense oligonucleotides as a disease-modifying therapy for Parkinson's disease.
PMID: 33682798
JCI Insight · 2021
0.90
3
Special issue "Parkinson's disease".
PMID: 29882128
Cell Tissue Res · 2018
0.82
4
Recombinant pro-CTSD (cathepsin D) enhances SNCA/α-Synuclein degradation in α-Synucleinopathy models.
PMID: 35287553
Autophagy · 2022
0.80
5
Isogenic human SNCA gene dosage induced pluripotent stem cells to model Parkinson's disease.
PMID: 35263701
Stem Cell Res · 2022
0.78