SNCB Human
Description
Gene and Protein Overview
SNCB (synuclein beta) is located on chromosome 5q35 and encodes a 14.3 kDa protein. Key features include:
Beta-synuclein inhibits phospholipase D2 and binds calcium ions and tubulin, influencing synaptic plasticity and neuronal survival .
Genetic Variants and Functional Impact
Pathogenic and benign variants in SNCB are documented in public databases. Below are notable examples from the LOVD database :
| Variant | Classification | Protein Effect | Frequency |
|---|---|---|---|
| c.368C>A (p.Pro123His) | Pathogenic | Missense mutation | Rare (germline) |
| c.121+6T>C | Benign | Splice region alteration | Reported in controls |
No coding mutations in SNCB are strongly linked to Parkinson’s disease (PD), though marginal associations exist in diffuse Lewy body disease (DLBD) .
Role in Neurodegenerative Diseases
Beta-synuclein is implicated in Alzheimer’s disease (AD), dementia with Lewy bodies (DLB), and PD through distinct mechanisms:
Alzheimer’s Disease
Lewy Body Diseases
Parkinson’s Disease
-
Expression: High in substantia nigra, a region of dopaminergic neuron loss .
-
Limitations: No Lewy body involvement; no direct causative mutations identified .
Antibodies
| Antibody | Clone | Applications | Species Reactivity |
|---|---|---|---|
| Anti-β-Synuclein (Syn207) | Mouse monoclonal | Immunohistochemistry, Western blot | Human, mouse, rat |
ELISA Kits
| Kit | Detection Range | Sample Types | Sensitivity |
|---|---|---|---|
| MyBioSource CAG33308.1 | 0.5–10 ng/mL | Serum, plasma, tissue lysates | 0.1 ng/mL |
Emerging Research Directions
-
Therapeutic Potential:
-
Mechanistic Studies:
Product Specs
Product Science Overview
Beta-synuclein is an acidic neuronal protein composed of 134 amino acids. It is known for its extreme heat resistance and chaperone-like activity . The recombinant form of human beta-synuclein is typically produced in E. coli and is available as an un-tagged protein . The amino acid sequence of beta-synuclein is as follows:
MDVFMKGLSM AKEGVVAAAE KTKQGVTEAA EKTKEGVLYV GSKTREGVVQ GVASVAEKTK EQASHLGGAV FSGAGNIAAA TGLVKREEFP TDLKPEEVAQ EAAEEPLIEP LMEPEGESYE DPPQEEYQEY EPEA
The predicted molecular mass of beta-synuclein is approximately 14.2 kDa, although the observed molecular weight may vary due to post-translational modifications and other experimental factors .
Beta-synuclein is primarily found in brain tissue, particularly in presynaptic terminals. It is predominantly expressed in regions such as the neocortex, hippocampus, striatum, thalamus, and cerebellum . Unlike alpha-synuclein, beta-synuclein is not found in Lewy bodies, which are characteristic of Parkinson’s disease and dementia with Lewy bodies. However, it is associated with hippocampal pathology in these conditions .
Beta-synuclein plays a crucial role in maintaining synaptic function and plasticity. It has been suggested to inhibit the aggregation of alpha-synuclein, which is implicated in neurodegenerative diseases such as Parkinson’s disease . Additionally, beta-synuclein has been shown to have chaperone-like activity, helping to stabilize other proteins and prevent their misfolding .
Recombinant human beta-synuclein is widely used in research to study its structure, function, and role in neurodegenerative diseases. It is also used to investigate potential therapeutic strategies for conditions involving synucleinopathies. The protein is typically supplied in a buffer solution and should be stored at -20°C for long-term stability .
