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

Gene: SNCA-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs2245801 in SNCA;SNCA-AS1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs104893878 in SNCA;SNCA-AS1 gene and PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) PMID 23457019 2013 Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

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

PMID 9197268 1997 Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.

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

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

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

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

rs1372520 in SNCA;SNCA-AS1 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.