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SNCA

From SNPedia

is agene
is mentioned by
Full namesynuclein, alpha (non A4 component of amyloid precursor)
EntrezGene6622
PheGenI6622
VariationViewer6622
ClinVarSNCA
GeneCardsSNCA
dbSNP6622
SADR6622
HugeNav6622
wikipediaSNCA
googleSNCA
gopubmedSNCA
EVSSNCA
HEFalMpSNCA
MyGene2SNCA
23andMeSNCA
UniProtP37840
EnsemblENSG00000145335
OMIM163890
# SNPs25
 Max MagnitudeChromosome positionSummary
rs1000523389,822,180
rs104893875089,828,170
rs104893877089,828,149
rs104893878089,835,580
rs14530456789,726,551
rs201106962089,828,156
rs203526889,834,926
rs230113489,837,794
rs230113589,837,238
rs258398889,839,677
rs261936389,837,896
rs261936489,838,736
rs2736990289,757,390
rs273702989,790,619
rs35616589,725,735
rs356168289,753,280
rs35618689,784,213
rs3562191.689,716,450
rs375606389,836,243
rs377544289,794,080
rs382208689,743,643
rs385705989,754,087
rs431905511089,828,154
rs7684318089,733,852
rs89427889,813,384


The SNCA gene encodes alpha-synuclein, an abundant brain protein known as a pre-synaptic chaperone. Different variants in SNCA have been associated with Alzheimer's disease, Parkinson's disease, and alcoholism.

Of note, a significant variation that is not a SNP in the SNCA gene is a complex repeat polymorphism known as REP1 (D4S3481), located about 10 kb upstream from the SNCA translation start site. REP1 is essentially triallelic and in comparison to the intermediate-length allele (“261”), the longest allele ("263") is associated with increased risk and the shortest ("259") with decreased risk for Parkinson's disease.[PMID 16896109]

Be aware that other publications name the REP-1 alleles a bit differently; for example, [PMID 11156617] names five known alleles with a varying number of dinucleotide repeats ranging in size from the shortest ("265") to the longest ("273").

Regardless of naming differences, there is general consensus that the shorter the REP1 allele, the lower the alpha synuclein expression.[PMID 18162487],[PMID 19834617]

Low levels of SNCA might offer less protection against oxidative stress [PMID 22936601], whereas high levels of SNCA may have a role in neurodegenerative diseases such as Parkinson's disease. This has led to at least one hypothesis stating that whereas low levels of SNCA may predispose to cravings for alcohol and consequent alcoholism, excessive alcohol consumption then increases SNCA expression greater than in nondrinkers, increasing risk for neurodegenerative diseases in at-risk individuals with SNPs predisposing to its aggregation.[PMID 24844177]


Distinct from REP1, SNCA SNPs have also been associated with the medical conditions already mentioned.

Publicationʃ[edit]

[PMID 25806429OA-icon.png] The effect of music performance on the transcriptome of professional musicians.