Synphilin-1 Products

Description

Tissue specificity: Widely expressed, with highest levels in brain, heart and placenta.; Defects in SNCAIP are a cause of Parkinson disease (PD). PD is a complex, multifactorial disorder that typically manifests after the age of 50 years, although early-onset cases (before 50 years) are known. PD generally arises as a sporadic condition but is occasionally inherited as a simple mendelian trait. Although sporadic and familial PD are very similar, inherited forms of the disease usually begin at earlier ages and are associated with atypical clinical features. PD is characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.; Constructs encoding portions of SNCA and SNCAIP co-transfected in mammalian cells promote cytosolic inclusions resembling the Lewy bodies of Parkinson disease. Coexpression of SNCA, SNCAIP, and PARK2 result in the formation of Lewy body-like ubiquitin-positive cytosolic inclusions. Familial mutations in PARK2 disrupt the ubiquitination of SNCAIP and the formation of the ubiquitin-positive inclusions. These results provide a molecular basis for the ubiquitination of Lewy body-associated proteins and link PARK2 and SNCA in a common pathogenic mechanism through their interaction with SNCAIP.

Bioinformatics

Entrez	9627 Human
Uniprot	Q9Y6H5 Human
Product By Gene ID	9627
Alternate Names	Alpha-synuclein-interacting protein MGC39814 Sph1 synphilin-1 synuclein, alpha interacting protein SYPH1

Research Areas for Synphilin-1

Find related products by research area and learn more about each of the different research areas below.

Alzheimers Research
Neuroscience