rs2530291107
This variant is located in the SNCA gene.
▶ClinVar annotation
Autosomal dominant Parkinson disease 1
View on ClinVar →About SNCA
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]
View all SNCA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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