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SNCA

Chr 4q22.1

synuclein alpha

Aliases:
NACP, PD1
MANE:
ENST00000394991.8
OMIM: 163890 ↗NCBI: 6622 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset dystonia, chorea or related movement disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Parkinson Disease and Complex Parkinsonism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Hereditary late-onset Parkinson disease

    0.79

  • Young adult-onset Parkinsonism

    0.77

  • Lewy body dementia

    0.74

  • Parkinson disease

    0.71

  • AL amyloidosis

    0.46

  • insomnia

    0.39

  • REM sleep behavior disorder

    0.38

  • parkinsonian-pyramidal syndrome

    0.37

  • Abnormality of the skeletal system

    0.34

  • Anxiety

    0.32

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

Protein function (UniProt)

Alpha-synuclein

Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release (PubMed:20798282, PubMed:26442590, PubMed:28288128, PubMed:30404828). Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores (PubMed:28288128, PubMed:30404828). Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis (PubMed:30404828). Also acts as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs (Soluble NSF Attachment Protein REceptors) at presynaptic plasma membrane in conjunction with cysteine string protein-alpha/DNAJC5 (PubMed:20798282). This chaperone activity is important to sustain normal SNARE-complex assembly during aging (PubMed:20798282). Also plays a role in the regulation of the dopamine neurotransmission by associating with the dopamine transporter (DAT1) and thereby modulating its activity (PubMed:26442590)

Diseases associated with SNCA

Curated MONDO disease pages that list SNCA among their top associated genes.

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.