KEGG   VARIANT: 6622v1
Entry
6622v1                      Variant                                
Name
SNCA mutation
Gene
SNCA  synuclein alpha [KO:K04528]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 163890
Network
nt06410  Calcium signaling
nt06412  Unfolded protein response (UPR) signaling
nt06418  Oxidative phosphorylation
nt06419  Microtubule-based transport
nt06420  Ubiquitin-proteasome system
nt06422  Dopamine metabolism
nt06463  Parkinson disease
  Element
N01030  Mutation-caused aberrant SNCA to 26S proteasome-mediated protein degradation
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
N01033  Mutation-caused aberrant SNCA to ATF6-mediated transcription
N01034  Mutation-caused aberrant SNCA to IRE1a-XBP1 signaling pathway
N01035  Mutation-caused aberrant SNCA to PERK-ATF4 signaling pathway
N01037  Mutation-caused aberrant SNCA to L-DOPA generation
N01041  Mutation-caused aberrant SNCA to transport of dopamine
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01055  Mutation-caused aberrant SNCA to anterograde axonal transport
Disease
H00057  Parkinson disease
Reference
PMID:10417297
  Authors
Athanassiadou A, Voutsinas G, Psiouri L, Leroy E, Polymeropoulos MH, Ilias A, Maniatis GM, Papapetropoulos T
  Title
Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein.
  Journal
Am J Hum Genet 65:555-8 (1999)
DOI:10.1086/302486
Reference
PMID:9462735
  Authors
Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, Przuntek H, Epplen JT, Schols L, Riess O
  Title
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
  Journal
Nat Genet 18:106-8 (1998)
DOI:10.1038/ng0298-106
Reference
PMID:23526723
  Authors
Lesage S, Anheim M, Letournel F, Bousset L, Honore A, Rozas N, Pieri L, Madiona K, Durr A, Melki R, Verny C, Brice A
  Title
G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.
  Journal
Ann Neurol 73:459-71 (2013)
DOI:10.1002/ana.23894

  All links  
Disease (1)   
   KEGG DISEASE (1)   
Gene (1)   
   OMIMVAR (1)   
Literature (3)   
   PubMed (3)   
All databases (5)   

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