NameSNCA
OrganismHomo sapiens
Aging PhenotypeN/A
Allele TypeDominant
StrainN/A
DescriptionMutation of alpha synulcein is associated with Parkinson`s disease (Polymeropoulos et al., 1997). Resting tremor, rigidity, bradykinesia and postural instability are associated with selective neurodegeneration of the pigmented neurons in the brain stem (the substantia nigra and the locus coerueus) and the presence of intracytoplasmic inclusion bodies (Lewy bodies) (Yamamura et al., 1973).
Gene FunctionPresynaptic protein thought to be involved in neuronal plasticity.
Other PhenotypesTwo types of mutations are known for the alpha-synuclein gene: Ala53Thr and Ala30Pro. Evidence suggests that the mutated protein may misfold, aggregate and resist degradation (Goedert, 2001).
Homologs
Primary ReferencePolymeropoulos M., Lavedan C., Leroy E., Ide S., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W., Lazzarini A., Duvoisin R., Di Iorio G., Golbe L., and Nu [Abstract]
Other ReferencesGoedert, M. (2001). Alpha-synuclein and neurodegenerative diseases. Nat Rev Neurosci 2, 492-501. [Abstract]
Relevant LinksLocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=348
LocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=6622
OMIM: http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=163890
KeywordsParkinson's disease, neuron, H. sapiens