Beta-synuclein

SNCB
Identifiers
Aliases	SNCB, entrez:6620, synuclein beta
External IDs	OMIM: 602569 MGI: 1889011 HomoloGene: 2320 GeneCards: SNCB
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q35.2 Start 176,620,082 bp[1] End 176,630,556 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B1|13 29.28 cM Start 54,906,673 bp[2] End 54,914,408 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 10 dorsolateral prefrontal cortex Brodmann area 9 frontal pole amygdala hypothalamus postcentral gyrus orbitofrontal cortex nucleus accumbens superior frontal gyrus Top expressed in superior frontal gyrus entorhinal cortex cerebellar cortex superior colliculus dorsomedial hypothalamic nucleus inferior colliculus prefrontal cortex primary motor cortex hippocampus proper medulla oblongata More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phospholipase inhibitor activity calcium ion binding transition metal ion binding cuprous ion binding Cellular component inclusion body synapse cytoplasm cytosol presynapse Biological process negative regulation of neuron apoptotic process synapse organization dopamine metabolic process chemical synaptic transmission negative regulation of catalytic activity response to metal ion synaptic vesicle endocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6620 104069 Ensembl ENSG00000074317 ENSMUSG00000034891 UniProt Q16143 Q91ZZ3 RefSeq (mRNA) NM_001001502 NM_003085 NM_001318034 NM_001318035 NM_001318036 NM_001318037 NM_001363140 NM_033610 NM_001362407 RefSeq (protein) NP_001001502 NP_001304963 NP_001304964 NP_001304965 NP_001304966 NP_003076 NP_001350069 NP_291088 NP_001349336 Location (UCSC) Chr 5: 176.62 – 176.63 Mb Chr 13: 54.91 – 54.91 Mb PubMed search [3] [4]
Wikidata
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Beta-synuclein is a protein that in humans is encoded by the SNCB gene.^[5][6][7]

The protein encoded by this gene is highly homologous to alpha-synuclein. These proteins are abundantly expressed in the brain and putatively inhibit phospholipase D2 selectively. The encoded protein, which may play a role in neuronal plasticity, is abundant in neurofibrillary lesions of patients with Alzheimer's disease. This protein has been shown to be highly expressed in the substantia nigra of the brain, a region of neuronal degeneration in patients with Parkinson's disease; however, no direct relation to Parkinson's disease has been established. Two transcript variants encoding the same protein have been found for this gene.^[7]

Beta-synuclein is a synuclein protein found primarily in brain tissue and is seen mainly in presynaptic terminals. Beta-synuclein is predominantly expressed in the neocortex, hippocampus, striatum, thalamus, and cerebellum. It is not found in Lewy bodies, but it is associated with hippocampal pathology in PD and DLB.^[8]

Beta-synuclein is suggested to be an inhibitor of alpha-synuclein aggregation, which occurs in neurodegenerative diseases such as Parkinson's disease. Thus, beta-synuclein may protect the central nervous system from the neurotoxic effects of alpha-synuclein and provide a novel treatment of neurodegenerative disorders.^[9][10]

See also

• Synuclein

References

Further reading

External links

• Human SNCB genome location and SNCB gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 26 November 2023, at 12:49