Previous symbols: DDPAC, MAPTL. Aliases: MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103, tau-40, Tau-PHF6.
MAPT encodes microtubule-associated protein tau, a neuronally enriched, intrinsically disordered microtubule-associated protein. Tau binds tubulin and microtubules through repeat domains, promotes microtubule assembly and stability, and contributes to axonal microtubule organization, axonal transport, neurite/axon development, and neuronal polarity. Tau also associates with neural plasma-membrane and axonal cortex components, and disease-associated phosphorylation or acetylation can alter microtubule and membrane binding. In Alzheimer disease and other tauopathies, modified tau mislocalizes and self-assembles into paired-helical-filament/neurofibrillary-tangle pathology with downstream synaptic, mitochondrial, glial, secretion, and stress-response consequences.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex | susceptibility germline | |
| Corticobasal Syndrome | risk factor | |
| Progressive Supranuclear Palsy | risk factor germline |
mechanism: MAPT H1 Haplotype and 4R Tau Splicing Imbalance
subtype: Inherited PSP (MAPT)
|
| Frontotemporal Dementia |
untyped
Mutations cause autosomal dominant FTD with tau pathology
|
mechanism: Tau Proteinopathy
subtype: Behavioral Variant FTD
|
| Pick Disease |
untyped
Germline Mutation; Risk Factor
|
|
| Primary Progressive Aphasia |
untyped
Causative
|
|
| Alzheimer Disease | no genetic record |
mechanism: Intercellular Tau Transmission via Extracellular Vesicles; Neurofibrillary Tangle Formation; Tau-Induced Nucleocytoplasmic Transport Failure
treatment: Tau-Directed Antisense Oligonucleotide Therapy
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.