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SNCB

Chr 5q35.2

synuclein beta

MANE:
ENST00000393693.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Adult onset neurodegenerative disorder

    Unknown
  • Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Disease associations (Open Targets)

  • neurodegenerative disease

    0.47
  • Lewy body dementia

    0.44
  • intracranial hemorrhage

    0.24
  • Alzheimer disease

    0.09
  • glioblastoma

    0.05
  • connective tissue disorder

    0.04
  • central nervous system cancer

    0.04
  • androgen insensitivity syndrome

    0.04
  • atypical teratoid rhabdoid tumor

    0.03
  • dementia

    0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Beta-synuclein

Non-amyloid component of senile plaques found in Alzheimer disease. Could act as a regulator of SNCA aggregation process. Protects neurons from staurosporine and 6-hydroxy dopamine (6OHDA)-stimulated caspase activation in a p53/TP53-dependent manner. Contributes to restore the SNCA anti-apoptotic function abolished by 6OHDA. Not found in the Lewy bodies associated with Parkinson disease

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.