Molecular weight (DA)
100kD
Immunogen
The antiserum was produced against synthesized peptide derived from human Synphilin-1. AA range:797-846
Specificity
Synphilin-1 Polyclonal Antibody detects endogenous levels of Synphilin-1 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/10000.. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
disease: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:
Other name
SNCAIP; Synphilin-1; Sph1; Alpha-synuclein-interacting protein
Fields
>>Parkinson disease;>>Pathways of neurodegeneration - multiple diseases
Human protein sequence Database
Q9Y6H5
Mouse protein sequence database
Q99ME3
Rat protein sequence database
Cellular localization
Cytoplasm . Detected in cytoplasmic inclusion bodies, together with SNCA.
Tissue expression
Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta.