SNCA synuclein alpha
Gene ID: 6622, updated on 17-Nov-2024Gene type: protein coding
Also known as: PD1; NACP; PARK1; PARK4
- See all available tests in GTR for this gene
- Go to complete Gene record for SNCA
- Go to Variation Viewer for SNCA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant Parkinson disease 1 | not available |
| Autosomal dominant Parkinson disease 4 | not available |
| Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. GeneReviews: Not available | |
| Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. GeneReviews: Not available | |
| Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. GeneReviews: Not available | |
| Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. GeneReviews: Not available | |
| Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. GeneReviews: Not available | |
| Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. GeneReviews: Not available | |
| Genome-wide association study reveals genetic risk underlying Parkinson's disease. GeneReviews: Not available | |
| Identification of a novel Parkinson's disease locus via stratified genome-wide association study. GeneReviews: Not available | |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Lewy body dementia | not available |
| Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. GeneReviews: Not available | |
| Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. GeneReviews: Not available |
Genomic context
- Location:
- 4q22.1
- Sequence:
- Chromosome: 4; NC_000004.12 (89724099..89838304, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SNCA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- Parkinson's disease Mutation Database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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