Alpha-Synuclein, E46K mutant
MDVFMKGLSK AKEGVVAAAE KTKQGVAEAA GKTKEGVLYV GSKTKKGVVH GVATVAEKTK EQVTNVGGAV VTGVTAVAQK TVEGAGSIAA ATGFVKKDQL GKNEEGAPQE GILEDMPVDP DNEAYEMPSE EGYQDYEPEA
Recombinant. A DNA sequence encoding the human alpha-synuclein, E46K mutant sequence was expressed in E. coli.
A point mutant (46K) of alpha-synuclein gene that has been linked to autosomal dominant early onset Parkinson’s Disease (PD). Alpha- Synuclein (α-Synuclein) is a 14 kD (140 amino acids) acidic presynaptic protein. It is a major component of PD aggregates and is implicated in the pathogenesis of PD and related neurodegenerative disorders.
>95% by SDS-PAGE and Mass Spec.
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1) Zarranz, J.J., et. al. (2004), Ann Neurol. 55, 164