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MAPT

Chr 17q21.31

microtubule associated protein tau

Aliases:
MTBT1, tau, PPND, FTDP-17, TAU
MANE:
ENST00000262410.10

Annotations refreshed 9 hours 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
  • Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Parkinson Disease and Complex Parkinsonism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • frontotemporal dementia

    0.79
  • Pick disease

    0.76
  • supranuclear palsy, progressive, 1

    0.73
  • Progressive supranuclear palsy - parkinsonism

    0.71
  • Atypical progressive supranuclear palsy

    0.71
  • Classical progressive supranuclear palsy

    0.70
  • progressive supranuclear palsy-parkinsonism syndrome

    0.65
  • late-onset Parkinson disease

    0.64
  • semantic dementia

    0.64
  • progressive supranuclear palsy

    0.61

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

Protein function (UniProt)

Microtubule-associated protein tau

Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization

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.