Gene: SNCA

Alternate names for this Gene: NACP|PARK1|PARK4|PD1

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q22.1

Description of this Gene: synuclein alpha

Type of Gene: protein-coding

rs10005233 in SNCA gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs2737002 in SNCA gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs104893875 in SNCA gene and Lewy Body Disease PMID 14755719 2004 The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.

rs104893875 in SNCA gene and PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) PMID 9197268 1997 Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.

PMID 24936070 2014 The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.

PMID 23457019 2013 Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

PMID 14755719 2004 The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.

PMID 23427326 2013 A novel α-synuclein missense mutation in Parkinson disease.

PMID 9462735 1998 Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.

PMID 25561023 2015 Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions.

rs10516845 in SNCA gene and Parkinson Disease PMID 21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

PMID 22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

PMID 19915575 2009 Genome-wide association study reveals genetic risk underlying Parkinson's disease.

PMID 20070850 2010 Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.

PMID 24511991 2014 Identification of a novel Parkinson's disease locus via stratified genome-wide association study.

PMID 20711177 2010 Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

PMID 30957308 2019 Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

PMID 28011712 2017 Genome-wide association study of Parkinson's disease in East Asians.

rs2736990 in SNCA gene and Prion Diseases PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.