Product Information
Molecular Weight100409 DaObserved Band:100 KD
Protein NameSynphilin-1
Human Gene Id9627
Human Swiss Prot NoQ9Y6H5
Mouse Swiss Prot NoQ99ME3
SpecificitySynphilin-1 Polyclonal Antibody detects endogenous levels of Synphilin-1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameSNCAIP; Synphilin-1; Sph1; Alpha-synuclein-interacting protein
Functiondisease:Defects in SNCAIP are a cause of Parkinson disease (PD) [MIM:168600]. 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.,miscellaneous:
Subcellular LocationCytoplasm . Detected in cytoplasmic inclusion bodies, together with SNCA.
ExpressionDetected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta.
Backgroundsynuclein alpha interacting protein(SNCAIP) Homo sapiens 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015],