SNCB Chromosome 5
Synuclein beta
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What This Gene Does
This gene encodes a member of a small family of proteins that inhibit phospholipase D2 and may function in neuronal plasticity. The encoded protein is abundant in lesions of patients with Alzheimer disease. A mutation in this gene was found in individuals with dementia with Lewy bodies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Synuclein family"
Locus Type
gene with protein product
Location
5q35.2
Ensembl
ENSG00000074317
Associated Conditions (2)
Lewy body dementia
SNCB-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893937 | Health Risk | Conflicting classifications of pathogenicity | Lewy body dementia, SNCB-related disorder, Lewy body dementia |
| RS104893936 | Health Risk | Pathogenic | Lewy body dementia, Lewy body dementia |