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MAPT gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MAPT gene

The MAPT gene provides instructions for making the tau protein, which is essential for stabilizing microtubules in nerve cells within the brain.

Normal Function

The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.

Health Conditions Related to Genetic Changes

Frontotemporal dementia with parkinsonism-17

More than 40 mutations in the MAPT gene have been found to cause frontotemporal dementia with parkinsonism-17 (FTDP-17). Some of these mutations change single amino acids in the tau protein, most often in the microtubule-binding region. These mutations reduce tau's ability to bind to microtubules, which disrupts many important cell functions.

Other MAPT gene mutations change the way the gene's instructions are used to build the tau protein, leading to an imbalance of tau isoforms. This imbalance interferes with the normal functions of brain cells, leading to an accumulation of abnormal tau in neurons. FTDP-17 is characterized by the gradual death of cells in the frontal and temporal lobes, resulting in changes in personality, behavior, speech, and movement.

Progressive supranuclear palsy

Several mutations in the MAPT gene have been found to cause progressive supranuclear palsy, though these mutations are a rare cause of the disorder. Additionally, a normal variation (polymorphism) known as the H1 haplotype has been associated with an increased risk of developing the disease. The condition is characterized by the accumulation of defective tau protein, which leads to the gradual death of brain cells essential for coordinating movement.

Other disorders

Mutations in the MAPT gene have also been found to cause other brain disorders, including corticobasal degeneration, tauopathy with respiratory failure, and a form of dementia with seizures (epilepsy). Because these diseases are characterized by an abnormal buildup of tau in the brain, they are known as tauopathies.

Other Names for This Gene

  • DDPAC
  • FLJ31424
  • FTDP-17
  • G protein beta1/gamma2 subunit-interacting factor 1
  • MAPTL
  • MGC138549
  • microtubule-associated protein tau
  • MSTD
  • MTBT1
  • MTBT2
  • neurofibrillary tangle protein
  • paired helical filament-tau
  • PHF-tau
  • PPND
  • PPP1R103
  • TAU
  • TAU_HUMAN

Frequently Asked Questions

MAPT mutations follow an autosomal dominant pattern, giving each child a 50 % chance of inheriting the variant. However, penetrance can be age‑dependent and variable; some carriers remain asymptomatic into late adulthood. Genetic counseling should discuss predictive testing, the psychological impact of knowing one's risk, and options for surveillance or participation in research trials.
The standard approach is a clinical exome or targeted neurodegeneration panel that includes the MAPT coding regions and intron‑exon boundaries. If a specific familial mutation is known, Sanger sequencing of that hotspot can be used. Copy‑number analysis (MLPA) may be added to detect larger deletions or duplications. Results should be interpreted by a genetics professional familiar with MAPT variant pathogenicity.
Currently, no therapy has proven to halt tau aggregation in H1 carriers. Observational data suggest that regular aerobic exercise, strict blood‑pressure control, and a Mediterranean‑style diet may modestly reduce neurodegeneration risk. Some clinicians trial low‑dose lithium or anti‑tau antibodies in research settings, but these are not standard of care.
Pathogenic MAPT mutations produce abnormal tau that aggregates, leading to earlier onset (often before age 60) and a more rapid decline in executive function, language, and motor abilities compared to sporadic cases. Management emphasizes multidisciplinary care: speech and language therapy, physiotherapy for parkinsonian features, and medications such as levodopa for rigidity, although response is variable. Disease‑modifying trials targeting tau are ongoing, and patients with confirmed MAPT mutations may be eligible for clinical studies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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