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Description

Alpha-synuclein (UniProt: P37840, also known as Non-A beta component of AD amyloid, Non-A4 component of amyloid precursor, NACP) is encoded by the SNCA (also known as NACP, PARK1) gene (Gene ID: 6622) in human. Alpha-synuclein is abundantly expressed in the brain and is found in a classic amyloid fibril form within the intra-neuronal Lewy body deposits of Parkinson's disease brains. The physiological function of synucleins is not well understood, but appears to involve membrane interactions, and in particular reversible binding to synaptic vesicle membranes. It may also be involved in the regulation of dopamine release and transport. It is also reported to reduce neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation. Genetic alterations of SNCA gene is reported to result in aberrant polymerization into fibrils, which is associated with several neurodegenerative diseases (synucleinopathies). Mutations in SNCA gene are also known to Parkinson's disease characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. The pathology of Parkinson s disease involves progressive loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies in surviving neurons in various areas of the brain.