Description
Product Characteristics: Synphilin-1 is a cytoplasmic protein that is enriched in the neurophil of normal human brain. Although the exact function of synphilin-1 is unknown, it may possibly have a role as a cytoskeletal protein based on the presence of ankyrin-like repeats and an ATP, GTP-binding domain. It has been shown to be novel is its ability to associate in vivo with a-synuclein to form cytoplasmic eosinophilic inclusions. Additionally, it has been observed to be present in Lewy bodies of Parkinson disease, which are composed of a-synuclein. Because synphilin-1 is not found in protein aggregates of Alzheimer’s disease, it appears to be specific for a-synuclein-containing lesions. Synphilin-1 may facilitate the aggregation of a-synuclein into Lewy bodies.
Target Information: This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2011]