MapT

MAPT (Microtubule-Associated Protein Tau) is a gene that encodes the tau protein, a vital component in the stabilization of microtubules within neuronal cells. Located on chromosome 17q21.31, MAPT plays a critical role in maintaining the structural integrity of neurons, supporting axonal transport, and facilitating neuronal plasticity.

The tau protein produced by the MAPT gene is predominantly expressed in the central nervous system, particularly in neurons. It is characterized by several isoforms generated through alternative splicing, which can vary in the number of microtubule-binding repeats and N-terminal inserts. These isoforms help regulate microtubule dynamics and neuronal stability.

Mutations and abnormalities in the MAPT gene have been linked to a range of neurodegenerative disorders known as tauopathies. These include Alzheimer's disease, frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal degeneration. In these conditions, abnormal accumulation and aggregation of hyperphosphorylated tau proteins lead to neurofibrillary tangles, disrupting neuronal function and contributing to cognitive decline.

Research on MAPT involves understanding its normal biological functions as well as the pathological mechanisms underlying tau-related diseases. Therapeutic strategies targeting tau production, aggregation, or phosphorylation are under investigation to treat tauopathies and mitigate neurodegeneration.

Overall, MAPT is a crucial gene in neurobiology, with significant implications in understanding both normal neuronal function and the pathology of various neurodegenerative disorders.