MAPT : microtubule associated protein tau

Description

The MAPT (microtubule associated protein tau) is a protein-coding gene located on chromosome 17.

The MAPT gene provides instructions for making a protein called tau, found throughout the nervous system, including nerve cells in the brain. It is crucial for assembling and stabilizing microtubules, the cell's structural framework (cytoskeleton). These microtubules help maintain cell shape, facilitate cell division, and are essential for transporting materials within cells. The adult brain produces six different versions (isoforms) of the tau protein, varying in length from 352 to 441 protein building blocks (amino acids). The microtubule-binding domain, the part that attaches to microtubules, also varies among the isoforms. Three isoforms contain three repeated segments in this domain, while the other three have four repeated segments. Typically, the brain maintains an equal amount of three-repeat and four-repeat isoforms, a balance essential for normal neuron function.

The MAPT protein promotes the assembly and stability of microtubules, potentially contributing to the establishment and maintenance of neuronal polarity. Its C-terminus binds to axonal microtubules, while its N-terminus interacts with neural plasma membrane components, suggesting that it acts as a linker protein between these structures. Axonal polarity is determined by the localization of MAPT in the cell body, specifically within the domain defined by the centrosome. Short isoforms of MAPT allow for cytoskeletal plasticity, while longer isoforms may play a greater role in cytoskeletal stabilization.

MAPT is also known as DDPAC, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau-40.

Associated Diseases

• Progressive supranuclear palsy-corticobasal syndrome
• Parkinson disease, late-onset
• Behavioral variant of frontotemporal dementia
• Frontotemporal dementia
• Supranuclear palsy, progressive atypical
• Pick disease of brain
• Supranuclear palsy, progressive, 1
• Classic progressive supranuclear palsy syndrome
• Semantic dementia
• Progressive supranuclear palsy-predominant parkinsonism syndrome
• Progressive non-fluent aphasia
• Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
• Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
• Frontotemporal dementia with parkinsonism-17
• Idiopathic pulmonary fibrosis
• Progressive supranuclear palsy